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  • Hereditary Vitreoretinal Degenerations

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    Imtiaz Ahmed
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    This document summarizes several hereditary vitreoretinal degenerations: Stickler syndrome is an autosomal dominant condition presenting in the first decade with retinal detachment in 30% of cases. Features include vitreous abnormalities, retinal degeneration, myopia, cataracts, and systemic associations. Congenital retinoschisis is an X-linked recessive condition presenting in the first decade with foveal and peripheral schisis, sometimes leading to retinal detachment. Favre-Goldmann syndrome is an autosomal recessive condition presenting in childhood with night blindness, retinoschisis, pigmentary retinopathy, and peripheral lesions. Familial exudative vitreoretin

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    Hereditary Vitreoretinal Degenerations PPT

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    This document summarizes several hereditary vitreoretinal degenerations: Stickler syndrome is an autosomal dominant condition presenting in the first decade with retinal detachment in 30% of cases. Features include vitreous abnormalities, retinal degeneration, myopia, cataracts, and systemic associations. Congenital retinoschisis is an X-linked recessive condition presenting in the first decade with foveal and peripheral schisis, sometimes leading to retinal detachment. Favre-Goldmann syndrome is an autosomal recessive condition presenting in childhood with night blindness, retinoschisis, pigmentary retinopathy, and peripheral lesions. Familial exudative vitreoretin

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    88 views11 pages

    Hereditary Vitreoretinal Degenerations

    Uploaded by

    Imtiaz Ahmed
    This document summarizes several hereditary vitreoretinal degenerations: Stickler syndrome is an autosomal dominant condition presenting in the first decade with retinal detachment in 30% of cases. Features include vitreous abnormalities, retinal degeneration, myopia, cataracts, and systemic associations. Congenital retinoschisis is an X-linked recessive condition presenting in the first decade with foveal and peripheral schisis, sometimes leading to retinal detachment. Favre-Goldmann syndrome is an autosomal recessive condition presenting in childhood with night blindness, retinoschisis, pigmentary retinopathy, and peripheral lesions. Familial exudative vitreoretin

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    of 11

    HEREDITARY VITREORETINAL

    DEGENERATIONS

    1. Stickler syndrome

    2. Congenital retinoschisis

    3. Favre-Goldmann syndrome

    4. Familial exudative vitreoretinopathy


    Stickler syndrome
    Inheritance – Autosomal dominant
    Presents - first decade
    Prognosis - RD in 30% (commonest inherited cause of RD in children)
    Vitreous Retina

    • Optically empty central cavity


    • Radial lattice-like degeneration
    • Membranes extending into cavity
    • RPE hyperplasia , vascular sheathing
    and sclerosis
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    Ocular associations of Stickler syndrome

    Congenital non-progressive Cortical wedge-shaped


    high myopia (85%) cataract (40-50%)

    Ectopia lentis (10%) Glaucoma (10%) : angle anomaly


    Systemic features of Stickler syndrome
    Facial anomalies Arthropathy

    Joint hyperflexibility
    Mitral valve prolapse

    Prophylactic laser should be


    done for both eyes.

    • Depressed nasal bridge • Kyphoscoliosis


    and midfacial hypoplasia • Peripheral
    • Micrognathia, glossoptosis arthropathy
    and cleft palate and high- . deafness
    arched palate
    Congenital retinoschisis
    Inheritance - X-linked recessive. males, a homozygous woman from a
    consanguineous marriage also can be affected.
    Presents - first decade with bilat. Maculopathy + peripheral schisis in 50%.
    (decreased vision, strabismus and nystagmus)
    Prognosis - Early in life, the central vision usually is impaired mildly because
    of a cyst in the fovea. Later, the central vision can become impaired more markedly
    Foveal schisis (100%) Peripheral schisis (50%)

    • ‘Bicycle-wheel’ striae • Extremely thin inner layer


    • Eventually atrophic • Round inner layer defects
    Congenital retinoschisis

    • The basic defect is in the Muller cell, causing splitting of the retinal nerve
    fiber from the rest of the sensory retina.
    • Complication : vitreous and intraschisis hemorrhage, RD (11- 16%).
    • EOG : normal except in advanced peripheral schisis.
    • ERG - decreased b-wave if associated with peripheral schisis
    (inferotemporal )
    • CV : Tritan defect.
    • VF: Absolute defect in peripheral schisis.

    vitreous veils
    Favre-Goldmann syndrome
    Inheritance – Autosomal recessive
    Presents - first decade with nyctalopia
    Prognosis - poor
    ERG - reduced

    • Vitreous liquefaction
    • Retinoschisis
    • Pigmentary retinopathy
    • White, dendritiform, arborescent peripheral lesions
    Familial exudative vitreoretinopathy
    Inheritance - Autosomal dominant
    Presents – late childhood
    Prognosis - poor (RD, vitreous haemorrhage and cataract )

    Temporal fibrovascular proliferation Temporal dragging of disc and macula


    similar to ROP
    Albinism
    tyrosinase
    • Tyrosine melanin
    • Patients are at high risk for sunburn and skin cancers and should avoid
    sunlight, use sunglasses (with UV filtration), and use sunscreen
    • Types:
    – Oculocutaneous. (AR): tyrosinase negative or tyrosinase positive
    – Ocular. (XL)
    Oculocutaneous (AR) Ocular (XL)
    tyrosinase negative tyrosinase positive
    . Variable amount of melanin. . Hypopigmented irides and
    . No melanin. photophobia fundi.
    . sign: to a lesser extent.
    . Translucent iris. “pinked-eye”. . Less evident skin and hair
    . Associated syndrome:
    . Hypopigmented fundus with involvement.
    prominent large choroidal vessels - Chediak-Hegashi: WBC with
    . Two types : true albinism
    increase rate of infection.
    . Foveal and optic nerve hypoplasia with markedly impaired VA
    - Hermansky-Pudlak: Platelet due to foveal hypoplasia ,
    . VA< 20/200 with nystagmus. defectwith easy bruising and bleeding Albinoidism with good VA
    . No. of uncrossed nerve fibers at
    the chiasm.

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