Nanophthalmos with Retinopathy Clinical CharacteristicsOcular Features: This is a rare syndrome consisting of a pigmentary degeneration of the retina in association with nanophthalmos. The globe is small with a thickened choroid and sclera and the macula becomes atrophic later in life. Some patients have cystic macular changes early without fluorescein leakage. The anterior chamber is shallow, the angle is narrow, and the cornea may be small leading to angle closure glaucoma in most patients. Extensive anterior and posterior synechiae can be seen. The retina has a postequatorial bone spicule pattern of pigmentation with narrowing of arterial vessels. Hyperopia is usually present and nightblindness may be noted in the first decade of life. The ERG early shows loss of rod function and progression of the retinal disease subsequently leads to extinction of all rod and cone responses by midlife. The EOG may be subnormal and visual fields are severely constricted. Pallor and crowding of the optic nerve are common. The vitreous may contain prominent fibrils and fine white granules. Visual acuity is often 20/200 or worse. Systemic Features: No systemic abnormalities have been reported. GeneticsThis is likely an autosomal recessive disorder based on frequent parental consanguinity and sibships with multiple affected individuals of both sexes. However, the first reported family in 1958 with 13 affected individuals in 4 generations suggested autosomal dominant inheritance. No molecular defect has been identified. This may be the same disorder as microphthalmia with retinitis pigmentosa (611040) in which so far no molecular mutation has been identified. Pedigree: Autosomal recessiveTreatmentTreatment Options: Narrow angles with shallow anterior chamber depth should be treated with prophylactic iridotomies. ReferencesArticle Title: Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. A new recessive syndrome MacKay CJ, Shek MS, Carr RE, Yanuzzi LA, Gouras P. Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. A new recessive syndrome. Arch Ophthalmol. 1987 Mar;105(3):366-71. PubMed ID: 3827713 Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma--a new syndrome Ghose S, Sachdev MS, Kumar H. Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma--a new syndrome? Br J Ophthalmol. 1985 Aug;69(8):624-8. PubMed ID: 4016062 Angle closure glaucoma in nanophthalmos and pigmentary retinal dystrophy: a rare syndrome Mandal AK, Das T, Gothwal VK. Angle closure glaucoma in nanophthalmos and pigmentary retinal dystrophy: a rare syndrome. Indian J Ophthalmol. 2001 Dec;49(4):271-2. PubMed ID: 12930123 Le syndrome microphalmie-retinite pigmentaire-glaucoma Herman P. Le syndrome microphalmie-retinite pigmentaire-glaucoma. Arch Ophthalmol 1958 18:17-24. Read more about Nanophthalmos with Retinopathy
Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. A new recessive syndrome MacKay CJ, Shek MS, Carr RE, Yanuzzi LA, Gouras P. Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. A new recessive syndrome. Arch Ophthalmol. 1987 Mar;105(3):366-71. PubMed ID: 3827713
Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma--a new syndrome Ghose S, Sachdev MS, Kumar H. Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma--a new syndrome? Br J Ophthalmol. 1985 Aug;69(8):624-8. PubMed ID: 4016062
Angle closure glaucoma in nanophthalmos and pigmentary retinal dystrophy: a rare syndrome Mandal AK, Das T, Gothwal VK. Angle closure glaucoma in nanophthalmos and pigmentary retinal dystrophy: a rare syndrome. Indian J Ophthalmol. 2001 Dec;49(4):271-2. PubMed ID: 12930123
Le syndrome microphalmie-retinite pigmentaire-glaucoma Herman P. Le syndrome microphalmie-retinite pigmentaire-glaucoma. Arch Ophthalmol 1958 18:17-24.
