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Chapter 112 – Hereditary Vitreoretinopathies

Chapter 112 – Hereditary Vitreoretinopathies









• A group of rare, inherited disorders with primary manifestations that include vitreous and retinal degeneration.



• Premature vitreous syneresis.

• Retinal degeneration.

• Abnormal acquired retinal pigmentation.



• Autosomal dominant or X-linked recessive inheritance patterns.

• Loss of b wave on electroretinography.

• Retinal pigment epithelial hyperplasia or atrophy.

• Retinal vascular abnormalities.

• Vitreous bands.

• Retinal detachment.





The hereditary vitreoretinopathies are a diverse group of disorders that comprise numerous conditions. Although rare, these diseases are intriguing. Several newly described conditions are included in this chapter, in addition to the diseases classically chosen for discussion. Also, relevant reports concerning molecular diagnostic methods are incorporated.

Patients who are affected by hereditary vitreoretinopathies may have a dramatic clinical picture with characteristic ophthalmoscopic findings, often accompanied by severe visual sequelae that require extensive vitreoretinal surgery. Some diseases feature premature vitreous degeneration with high rates of retinal detachment. Other hereditary vitreoretinopathies manifest secondary vitreous degeneration that arises from primary retinal disease. Some share unusual electroretinographic (ERG) abnormalities, which include an unexplained selective loss of the b wave amplitude. This is not to imply that a single cause exists for selective b wave loss in the hereditary vitreoretinopathies. More likely, multiple links occur in the chain, which, if broken, produce the waveform abnormality of selective b wave loss ( Box 112-1 ). All but two of the diseases in this chapter are inherited in an autosomal dominant fashion, the exceptions being X-linked recessive inheritance in juvenile retinoschisis and X-linked recessive inheritance in some pedigrees of familial exudative vitreoretinopathy (FEVR).

The exact role of the vitreous body in these diseases is unknown and has received little attention. Sebag[1] studied the anatomy of the vitreous body and hypothesized on its role in retinal diseases. Historically, it was felt to play a passive role in the maintenance of the volume of the eye and was inviolate because of poor surgical outcomes. However, therapeutic vitrectomy became safe with refinements in modern guillotine cutters.



Diseases With Selective Loss of b Wave Amplitude on ERG Testing

X-linked juvenile retinoschisis


Congenital stationary night blindness


Oguchi’s disease


Myotonic dystrophy


Batten’s disease (neuronal ceroid lipofuscinosis)


Autosomal dominant neovascular inflammatory vitreoretinopathy


Quinine toxicity


Methanol toxicity




Acute central retinal artery occlusion


Acute central retinal vein occlusion





As a result of considerable surgical experience, our understanding of the role of vitreoretinal traction in hereditary retinal diseases is now expanding.

For each of the entities discussed below, a McKusick identification number is given. McKusick’s Mendelian Inheritance in Man is a textbook that is a catalog of genes and genetic disorders in man.[2] Each disease is coded with a number, and the book is updated constantly. The book is a central reference for the discussion of genetic diseases among researchers and clinicians. Recent advances in molecular biology have increased the utility of this work tremendously, and it is now available on the Internet.[2]




Stickler’s syndrome also is known as hereditary arthro-ophthalmopathy. It is of autosomal dominant inheritance, and the penetrance is complete but the expressivity is widely variable. It is a progressive disorder with a high risk of both ocular problems and systemic morbidity. The clinical spectrum of affected patients who have Stickler’s syndrome includes high myopia, retinal detachments, and premature degenerative changes of cartilage.


Stickler’s syndrome is the most common autosomal dominantly inherited connective tissue disorder in the American Midwest.[3] The strongest case for the argument that vitreous body abnormalities cause retinal pathology arises primarily in Stickler’s syndrome. It is hypothesized that the vitreous degeneration is a direct effect of mutations in a structural protein, procollagen II. A significant advance in our understanding of Stickler’s syndrome (McKusick No. 120140) was the discovery of a type II collagen gene (COL2A1) mutation on the long arm of chromosome 12 in affected pedigrees. The gene product is a building block in various types of tissue. Structural alterations in the highly ordered





Figure 112-1 Fundus view of the eye of a patient with Stickler’s syndrome. Note the radial perivascular pigmentary changes.

vitreous body that arise from COL2A1 gene mutations cause vitreous degeneration and a high rate of complex retinal detachments. 4 , [5] Translational frameshift mutations are a common pathway by which disease is produced in patients with Stickler’s syndrome.[6] The original family of the Wagner’s syndrome (early-onset cataracts, lattice degeneration of the retina, retinal detachment without involvement of nonocular tissues) is not linked to the COL2A1 gene and may be called Wagner’s syndrome type I.


High myopia (-8 to -18D) is very common, as is an optically empty vitreous with membranes and strands. The optically empty vitreous refers to the presence of early onset, large lacunae of syneretic gel. It is best seen at the slit lamp through a widely dilated pupil. Dilated fundus examination typically reveals perivascular hyperpigmentary changes ( Fig. 112-1 ). Retinal breaks are common and may lead to complicated retinal detachments (50% of eyes in patients with Stickler’s syndrome). Giant retinal tears also may occur. Stickler’s syndrome–associated retinal detachments are notoriously difficult to repair, probably because of the underlying abnormal adherence between the vitreous and the retina.

Other ocular manifestations include presenile cataracts (in those patients less than 45 years of age, with peripheral, comma-shaped, cortical opacities). Open-angle glaucoma and ocular hypertension are additional problems found in patients with Stickler’s syndrome.


Based on the ocular findings alone, the diagnosis can be difficult. When coupled with one or more of the systemic abnormalities, especially with a positive family history, the diagnosis is more assured. Tests for the underlying gene defect are available in some centers and can confirm the diagnosis.

The ERG changes are commensurate with axial myopia reducing b wave amplitudes. No intrinsic abnormality of the generators of the waveforms in the ERG appears to occur. Similarly, the perimetric abnormalities, if any, occur secondary to retinal detachments and do not result from abnormalities in the visual pathway directly. For the differential diagnosis of Stickler’s syndrome, see Box 112-2 .


Of all the diseases discussed in this chapter, Stickler’s syndrome is unique in its wide-ranging systemic complications. Generalized epiphyseal dysplasia occurs, with premature degenerative changes in weight-bearing joints. Abnormalities of collagen that affect the head include submucous clefting of the palate and bifid uvula (75%; palpation with a gloved finger may be necessary to diagnose a submucous cleft). Midfacial flattening and the Pierre–Robin anomaly often are subtle, and radiographic studies may be required for diagnosis.[7] Sensorineural hearing loss often may be overlooked, as well as mitral valve



Differential Diagnosis of Hereditary Vitreoretinopathies



Wagner’s syndrome type I


High myopia (degenerative type)


Goldmann–Favre disease




Stickler’s syndrome


Retinitis pigmentosa




Goldmann–Favre disease


Autosomal dominant neovascular inflammatory vitreoretinopathy


Retnitis pigmentosa


Proliferative retinopathy






Cystoid macular edema


Stargardt’s disease (atrophic macula)


Goldmann–Favre disease


Senile retinoschisis


Retinitis pigmentosa




Autosomal dominant neovascular inflammatory vitreoretinopathy


Retinitis pigmentosa




Retinopathy of prematurity


Coats’ disease


Incontinentia pigmenti


Sickle cell disease





prolapse (50%),[8] unless sought after in the systemic evaluation. The hearing loss is progressive and affects most individuals by middle age.


Early in life, corrective lenses based on a cycloplegic refraction are prescribed to prevent amblyopia. A multidisciplinary evaluation (otolaryngology, orthopedics) and genetic tests (COL2A1 gene) with genetic counseling are important components of a global approach to the family with Stickler’s disease. A national organization, Stickler Involved People, has branches in England and the Netherlands and plans to expand to Canada and Australia. (The organization can be reached at 316-775-2993 [U.S.].) Annual to semiannual retinal evaluation through dilated pupils with prophylactic treatment of new retinal tears is suggested for longitudinal follow-up. If retinal detachment does not occur, the visual morbidity is minimal. Low-vision evaluation may be beneficial for all patients who develop a serious loss of vision that affects activities of daily living.



Erosive vitreoretinopathy is an autosomal dominantly inherited disease named after its unusual thinning of the retinal pigment epithelium, which produces a characteristically enhanced visualization of the fine choroidal vasculature. [9] In erosive vitreoretinopathy, a striking distortion of the retina occurs, apparently from tangential tractional forces transmitted thorough the vitreous. Pathological vitreoretinal forces are further indicated by the high rate of rhegmatogenous retinal detachments (50%) and severe retinal breaks, such as giant retinal tears. The pathological sequence of events at the molecular level is not yet known.


Erosive vitreoretinopathy is quite rare. The disease (ERVR; McKusick No. 143200) has been mapped to a genetic locus similar to that for Wagner’s syndrome on chromosome 5q13–14. These two diseases represent different alleles, however.[10]







Figure 112-2 Fundus view of the eyes of a patient with erosive vitreoretinopathy. Note the vitreous band (arrow) and unusual vitreoretinal traction, which has dragged the retinal vasculature superiorly in each eye. A, Right eye; B, left eye.


Early in the course of the disease premature vitreous syneresis occurs, with traction bands and multiple foci of vitreoretinal traction ( Fig. 112-2 ). Retinal detachments that arise from this atypical vitreous traction are common (50%). Similar to those occurring in patients with Stickler’s syndrome, giant tears are difficult problems for the vitreoretinal surgeon to repair. Indeed, 20% of patients are left with no light perception as a result of complex retinal detachments. Even without macular detachment, progressive retinal pigment epithelial thinning may lead to profound choroidal atrophy, or “cratering,” in the posterior pole ( Figs. 112-3 and 112-4 ).


The diagnosis can be suspected strongly on the basis of the clinical findings of premature vitreous syneresis and choroidal atrophy. Dark adaptometry demonstrates progressive nyctalopia with progressive deterioration of the retina. Ring scotomas develop during the course of the disease, with loss of the central island from central choroidal atrophy later. ERG shows progressive deterioration of both rods and cones, in a similar fashion to that found with the group of diseases called retinitis pigmentosa. Patients with Goldmann–Favre disease typically progress to nonrecordable ERGs much earlier in life than do patients with erosive vitreoretinopathy. There are no known systemic associations (i.e., patients have normal bone survey findings). For the differential diagnosis of erosive vitreoretinopathy, see Box 112-2 .


As in other conditions with a high rate of detachments (e.g., Stickler’s syndrome), annual to semiannual dilated retinal examination is prudent. Prophylactic treatment of symptomatic retinal breaks is indicated. Given the extremely high incidence of retinal detachment, similar treatment for asymptomatic, traction-related lesions appears prudent, albeit the value is unproved. Family members should be screened for retinal pathology in all diseases of known autosomal dominant inheritance. In the long term, the visual prognosis is poor because of progressive atrophy and retinal detachment.





Figure 112-3 Eye of a teenage boy with erosive vitreoretinopathy. A, Fundus view. B, Fluorescein angiogram. Note the unusual thinned retina and retinal pigment epithelium along the superotemporal arcade, which evokes the term erosive. Also, note the abnormal hypofluorescence in the macula and thinning of the retinal pigment epithelium adjacent to the optic nerve head.



Figure 112-4 Fundus view of the eye of the oldest member of a family affected by erosive vitreoretinopathy. Note the extensive full-thickness atrophy in the posterior pole in the form of a “crater.”



X-linked juvenile retinoschisis is a vitreoretinal degeneration affecting males. The cystic, spoke-like foveal changes, visual acuity deterioration, peripheral retinoschisis, and loss of ERG b wave are bilateral. Despite mutation heterogeneity, there are relatively uniform clinical characteristics, albeit with intrafamilial variation in onset and severity.


The disease is quite rare. X-linked juvenile retinoschisis (XLRS; McKusick No. 312700) has been localized to the short arm of the X chromosome in the region Xp22.1–p22.2. Sauer et al.[11] identified a candidate gene for XLRS comprising six exons encoding a 224–amino acid protein. The predicted protein sequence contains a highly conserved discoid domain, implicated in cell–cell adhesion and phospholipid binding. This may explain the splitting of the retina in XLRS. Because the disease is X-linked, affected patients are almost exclusively men. Loss-of-function mutations may result from mutations involving or creating cysteine residues, which alter tertiary protein folding or protein–protein interactions.


Cystic-like, stellate maculopathy, or foveal schisis, is present almost universally in XLRS and may be the only abnormality in



one half the cases ( Fig. 112-5 ). Similar to the findings in Goldmann–Favre disease, no late leakage occurs on fluorescein angiography. In older patients, foveal schisis evolves into an atrophic maculopathy. The average visual acuity is 20/60 (6/18) at age 20 years and 20/200 (6/60) at age 60 years.[12]

In retinoschisis the inner retina is split at the level of the nerve fiber layer ( Fig. 112-6 ), typically in the inferotemporal quadrant, and bilaterally in 40% of patients. The inner layer balloons into the vitreous cavity, and unsupported retinal vessels may lead to recurrent vitreous hemorrhages from associated vitreous traction. Vitreous veils may overlie the retinoschisis.[13] In XLRS, the vitreous exerts an effect upon the bullous nature of the retinoschisis lesion. The elevation is seen to flatten after a posterior vitreous detachment has produced a separation between the vitreous face and the internal limiting membrane. It is as if the vitreous releases the inner layers of the retina, which allows them to settle back into an anatomical position.

The Mizuo–Nakamura phenomenon has been described in four unrelated men who suffered from X-linked recessive retinoschisis.[14] Originally described in patients who had autosomal recessive Oguchi’s disease, a form of congenital stationary night blindness, this phenomenon also occurs in patients who have an X-linked cone dystrophy.[15]


The diagnosis is based on clinical examination, because ancillary testing is not particularly helpful. Fluorescein angiography generally shows no leakage of dye or true cystoid macular edema in the posterior pole, while the periphery may show slow filling of opacified, dendritic retinal vessels.[16]

The ERG shows selective loss of the b wave amplitude for the scotopic, nonattenuated flash, as well as loss of the oscillatory potentials. This ERG abnormality suggests a panretinal dysfunction, in spite of the ophthalmoscopic appearance of only foveal retinal schisis. No consistent ERG findings are found in female carriers, although sporadic reports of abnormalities exist.

Visual fields demonstrate absolute scotomas in areas of peripheral schisis, because the neural chain of information is interrupted. A relative central scotoma also is seen. Dark adaptation is normal or only minimally affected in X-linked retinoschisis. There are no known systemic associations. For the differential diagnosis of XLRS, see Box 112-2 .


Prophylactic treatment of retinoschisis or holes in schisis is not recommended, whereas secondary retinal detachment necessitates intervention. Combined retinal detachment and retinoschisis requires intervention to close the outer layer holes and full-thickness retinal breaks by vitrectomy, perfluorocarbon reattachment, and panretinal photocoagulation to areas of schisis and detachment, with scleral buckling of the retinal periphery. In young patients who are unable to comply with rigorous postoperative



Figure 112-5 Fundus view of foveal schisis seen in a man who has X-linked juvenile retinoschisis. This lesion should not be confused with cystoid macular edema.

positioning requirements imposed by instillation of long-acting gas, silicone oil tamponade may be preferable.

Genetic counseling is necessary in all cases. Carrier state detection generally is regarded as difficult in this disease, although isolated reports exist. Most patients develop a significant loss of macular function in one or both eyes with time. Children need to be examined frequently to rule out amblyopia, vitreous hemorrhage, or retinal detachment.



The most interesting aspect of autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is that it combines features of uveitis, proliferative retinopathy, and progressive retinal degeneration.[17] As with several of the other diseases grouped in this chapter, progressive ERG changes begin with selective b wave loss.


All patients who are afflicted with the condition are part of a large, multiple-generation pedigree concentrated in the







Figure 112-6 Juvenile retinoschisis. A, The characteristic foveal lesion, resembling a polycystic fovea, is shown. Typically, no leakage is present when fluorescein angiography is performed. B, A histological section of another eye shows a large temporal peripheral retinoschisis cavity. C, A histological section of another area of the same eye shows a splitting in the ganglion and nerve fiber layers of the retina on the earliest finding in juvenile retinoschisis. This pathology of the inner retinal layers is the same as that seen in reticular microcystoid degeneration and retinoschisis. (A, Courtesy of Dr. AJ Brucker. In: Yanoff M, Fine BS. Ocular pathology, ed 4. London: Mosby; 1996.)



American Midwest. As the name implies, autosomal dominant inheritance is a critical feature of the condition. Genetic linkage for ADNIV (VRNI; McKusick No. 193235) has been established to chromosome 11q13 with a maximal logarithm of the odds (LOD), score of 11.9, centered on marker D11S527.[18]


Vitreous cells occur alone as the first manifestation of ADNIV, at which stage ERG b wave loss also is noted. These changes occur typically in the teenage years and early twenties. Pigmentary changes appear in the retina, with clumping but not the bone-spicule type of hyperpigmentation seen in retinitis pigmentosa. As the disease progresses, prominent cystoid macular edema with generalized retinal vascular incompetence may be seen. With full-blown disease, a sequence of peripheral retinal vascular closure, peripheral retinal neovascularization, and vitreous hemorrhage occurs ( Fig. 112-7 ). Only minor syneretic vitreous changes, which appear to be secondary to retinal degeneration, occur in ADNIV. As a result, rhegmatogenous retinal detachment is not a common sequela. Traction retinal detachments are the most likely reason for vitreoretinal intervention. Neovascular glaucoma results from tractional changes in the retina or may occur as the end stage of retinal degeneration without detachments.


ERG helps to establish the diagnosis of ADNIV. The characteristic selective loss of b wave amplitude (scotopic, 0?dB attenuated standard flash) is seen at the earliest stages of disease, when the diagnosis of the condition is most in doubt. An abnormally low b wave–to–a wave ratio of amplitude is another characteristic of the ERG of affected patients. This may help in pedigree analysis to determine which family members are likely to be affected. With advancing age, progressive deterioration of all ERG responses occurs. No known systemic associations exist.


Unlike autosomal dominant vitreoretinochoroidopathy (ADVIRC), ADNIV has no distinct border to the peripheral pigmentary changes. Uveitis, proliferative disease, and ERG b wave changes are different from those of ADVIRC. The early ERG b wave loss is unlike that seen in retinitis pigmentosa–type diseases, although end-stage disease leads to progressive deterioration of the ERG a waves and b waves in both diseases.


With advancing pathology, vitrectomy with membranectomy for traction retinal detachments may be necessary. Scatter photocoagulation may influence the course of inflammatory vascular closure and subsequent proliferative disease. It is important to note that, in the past, cataract surgery was often followed by intense postoperative uveitis. It is not known whether more modern



Figure 112-7 Fundus view of a patient who has autosomal dominant neovascular inflammatory vitreoretinopathy. Note the proliferative retinopathy along the superotemporal arcade.

techniques of cataract extraction and lens implantation will prove to cause less inflammation.



The classic finding of ADVIRC is a sharply defined posterior border to an area of abnormal hypopigmentation or hyperpigmentation for 360 degrees bilaterally between the ora serrata and the equator ( Fig. 112-8 ). 19 , [20] Within this abnormally pigmented area are narrowed retinal arterioles, vascular incompetence, retinal neovascularization, punctate white retinal opacities, and later retinochoroidal atrophy. Cystoid macular edema, if present, is the most significant morbidity, although vitreous hemorrhage and epiretinal membranes also may affect the visual acuity. Profound alterations in the vitreous body are not described, although small numbers of vitreous cells and early posterior vitreous detachments may occur. The condition is slowly progressive and is not associated with retinal detachments. Histopathology has been described in an 88-year-old patient. Similar features to retinitis pigmentosa were found, along with some differences.[21] No linkage disequilibrium or gene has been identified to date for ADVIRC (VRCP; McKusick No. 193220).


Patients who have ADVIRC have no nyctalopia, and ERG findings are normal in younger affected individuals and only moderately depressed in older patients. No known systemic associations exist. For the differential diagnosis of ADVIRC, see Box 112-2 .


Annual or biannual dilated fundus examination is suggested unless the disease is symptomatic. The long-term visual prognosis is good.



FEVR, reported initially in 1969 by Criswick and Schepens,[22] has been called dominant exudative vitreoretinopathy, also. Both eyes are affected, but usually asymmetrically.


Linkage of several northern European families with FEVR (EVR; McKusick 133780) has been established on chromosome 11 (11q13), and in a large consanguineous Asian family linkage to



Figure 112-8 Fundus view of retinal periphery in autosomal dominant vitreoretinochoroidopathy. Note sharply demarcated posterior border to the hyperpigmented peripheral lesion. This border is a useful defining feature of autosomal dominant vitreoretinochoroidopathy.



D11S533 has been shown.[23] The locus of the disease in Schepens’ 24 , [25] original reported family (Criswick–Schepens) also has been mapped to the long arm of chromosome 11. The gene that causes the disease has not been found to date.

Like retinitis pigmentosa, FEVR is genetically heterogeneous. It was believed at one time that FEVR was transmitted only as an autosomal dominant disease; however, independent reports now exist of X-linked recessive inheritance. 26 , [27] Although rare, FEVR accounts for a significant percentage of all retinal detachments in juvenile and infant patients.


The prominent feature is the abrupt cessation of peripheral retinal vessels in a scalloped pattern at the temporal equator ( Figs. 112-9 and 112-10 ). Dilated retinal vessels may result in peripheral neovascularization with adjacent preretinal hemorrhage and may later evolve into a fibrovascular scar.[28] Subretinal exudates occur in 10–15% of eyes and can become massive, resembling Coats’ disease.

The majority of retinal detachments occur in the first decade of life, with little progression after 10 years of age. 29 , [30] Vitreous abnormalities include posterior vitreous detachment and vitreous bands or sheets attached to avascular retina, although milder cases may not show any visible vitreous change. An ectopic macula may be found in 50% of patients. A positive-angle kappa or strabismus is common.


The diagnosis is based on typical clinical findings, a positive family history, the lack of significant prematurity, and the exclusion of other possible causes of peripheral retinal pathology. Fluorescein angiography can be quite helpful because it highlights peripheral, nonperfused retina and shows the characteristic straightening of peripheral retinal vessels.

No significant ERG findings are noted. Even patients who have enough avascular peripheral retina to produce peripheral retinal neovascularization show only minor reductions in b wave amplitude. No known systemic associations occur. For the differential diagnosis of FEVR, see Box 112-2 .



Figure 112-9 Fundus view of a patient who has familial exudative vitreoretinopathy. Note abnormally straightened retinal vasculature.



Figure 112-10 Fluorescein angiogram of a patient who has familial exudative vitreoretinopathy. Fluorescein angiography is an excellent tool to define the abnormal retinal vasculature in familial exudative vitreoretinopathy. Fluorescein angioscopy, if available, is particularly useful for peripheral retinal vascular examination.


Early screening of individuals at risk is useful to identify nonperfused peripheral retina. Fluorescein angiography or angioscopy using the indirect ophthalmoscope and appropriate filters may be very useful in the identification of large areas of avascular peripheral retina.

Strabismus from dragged retina must be identified early. Retinal detachments primarily are tractional early in life and combined tractional and rhegmatogenous in the second decade (4–30% incidence).





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2. McKusick VA. Mendelian inheritance in man: catalogs of human genes and genetic disorders, ed 11. Baltimore: Johns Hopkins University Press; 1994; (http://www.ncbi.nlm.nih.gov/Omim).


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4. Francomano CA, Liberfarb RM, Hirose T, et al. The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen. Genomics. 1987;1:293–6.


5. Knowlton RG, Weaver EJ, Struyk AF, et al. Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene. Am J Hum Genet. 1989;45:681–8.


6. Ahmad NN, Ala KL, Knowlton RG, et al. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci U S A. 1991;88:6624–7.


7. Weingeist TA, Hermsen V, Hanson JVV, et al. Ocular and systemic manifestations of Stickler’s syndrome: a preliminary report. In: Cotlier E, Maumenee IH, Berman ER, eds. Genetic eye diseases: retinitis pigmentosa and other inherited eye disorders; proceedings of the International Symposium on Genetics, September 1981. New York: Alan R Liss; 1982:539–60.


8. Liberfarb R, Goldblatt A. Prevalence of mitral-valve prolapse in the Stickler syndrome. Am J Hum Genet. 1986;24:387–92.


9. Brown DM, Kimura AK, Weingeist TA, Stone EM. Erosive vitreoretinopathy—a new clinical entity. Ophthalmology. 1994;101:694–704.


10. Brown DM, Graemiger RA, Hergersberg M, et al. Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13–14. Arch Ophthalmol. 1995;113:671–5.


11. Sauer CG, Gehring A, Warneke-Wittsock R, et al. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet. 1997;17:164–70.


12. Forsius H, Krause U, Helve J, et al. Visual acuity in 183 cases of X-chromosomal retinoschisis. Can J Ophthalmol. 1973;8:385–93.


13. Tolentino FI, Schepens CL, Freeman HM. Vitreoretinal disorders: diagnosis and management. Philadelphia: WB Saunders; 1976:242–68.


14. deJong PT, Zrenner E, van Meel GJ, Keunen JE. Mizuo phenomenon in X-linked retinoschisis: pathogenesis of the Mizuo phenomenon. Arch Ophthalmol. 1991; 109:1104–8.


15. Heckenlively JR, Weleber RG. X-linked recessive cone dystrophy with tapetal-like sheen: a newly recognized entity with Mizuo–Nakamura phenomenon. Arch Ophthalmol. 1986;104:1322–8.


16. Green JL, Jampol LM. Vascular opacification and leakage in X-linked (juvenile) retinoschisis. Br J Ophthalmol. 1979;63:368–73.


17. Bennett SR, Folk JC, Kimura AK, et al. Autosomal dominant neovascular inflammatory vitreoretinopathy. Ophthalmology. 1990;97:1125–36.


18. Stone EM, Kimura AK, Folk JC, et al. Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13. Hum Mol Genet. 1992;1:685–9.


19. Kaufman SJ, Goldberg ME, Orth DH, et al. Autosomal dominant vitreoretinochoroidopathy. Arch Ophthalmol. 1982;100:272–8.


20. Blair NP, Goldberg MF, Fishman GA, Salzano T. Autosomal dominant vitreoretinochoroidopathy (ADVIRC). Br J Ophthalmol. 1984;68:2–9.


21. Goldberg MF, Lee FL, Tso MOM, Fishman GA. Histopathologic study of the autosomal dominant vitreoretinochoroidopathy: peripheral annular pigmentary dystrophy of the retina. Ophthalmology. 1989;96:1736–46.


22. Criswick VG, Schepens CL. Familial exudative vitreoretinopathy. Am J Ophthalmol. 1969;68:578–94.


23. Price SM, Periam N, Humphries A, et al. Familial exudative vitreoretinopathy linked to D11S533 in a large Asian family with consanguinity. Ophthalmic Genet. 1996;17:53–7.


24. Li Y, Muller B, Fuhrmann C, et al. The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. Am J Hum Genet. 1992;51:749–54.


25. Li Y, Fuhrmann C, Schwinger E, et al. The gene for autosomal dominant familial exudative vitreoretinopathy (Criswick–Schepens) on the long arm of chromosome 11. Am J Ophthalmol. 1992;113:712–3.


26. Plager DA, Orgel I, Ellis FD, et al. X-Linked recessive familial exudative vitreoretinopathy. Am J Ophthalmol. 1992;114:145–8.


27. Shastry BS, Hartzer MK, Trese MT. Familial exudative vitreoretinopathy: multiple modes of inheritance [Letter]. Clin Genet. 1993;44:275–6.


28. Gow J, Oliver GL. Familial exudative vitreoretinopathy. An expanded view. Arch Ophthalmol. 1971;86:150–5.


29. Miyakubo H, Inohara N, Hashimoto K. Retinal involvement in familial exudative vitreoretinopathy. Ophthalmologica. 1982;185:125–35.


30. van Nouhuys CE. Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina [Thesis]. Doc Ophthalmol. 1982; 54:1–415.

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