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Lost fovea!

𝐋𝐨𝐬𝐭 𝐟𝐨𝐯𝐞𝐚!⁣

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𝘖𝘤𝘶𝘭𝘰𝘤𝘶𝘵𝘢𝘯𝘦𝘰𝘶𝘴/ 𝘖𝘤𝘶𝘭𝘢𝘳 𝘈𝘭𝘣𝘪𝘯𝘪𝘴𝘮⁣

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Albinism is a congenital disorder causing reduced pigmentation due to complete or partial absence of melanin pigment affecting the skin, hair and eye.⁣

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Absence or defect of tyrosinase which is involved in production of melanin.⁣





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𝘛𝘸𝘰 𝘵𝘺𝘱𝘦𝘴:⁣

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𝐎𝐜𝐮𝐥𝐨𝐜𝐮𝐭𝐚𝐧𝐞𝐨𝐮𝐬 𝐚𝐥𝐛𝐢𝐧𝐢𝐬𝐦⁣

● Involves the eye, skin and hair⁣

● Autosomal recessive⁣

● Many types - OCA Type 2 is the most common type⁣

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𝐎𝐜𝐮𝐥𝐚𝐫 𝐚𝐥𝐛𝐢𝐧𝐢𝐬𝐦⁣

● Limited to the eyes⁣

● X linked recessive⁣

● Two types (1 and 2)⁣

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𝘊𝘭𝘪𝘯𝘪𝘤𝘢𝘭 𝘧𝘦𝘢𝘵𝘶𝘳𝘦𝘴:⁣

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● Poor visual acuity⁣

● Strabismus & Amblyopia⁣

● Photophobia - Sensitivity to bright light and glare⁣

● Refractive errors- Hypermetropia/Myopia, Astigmatism is very common⁣

● Pendular nystagmus⁣

● Iris transillumination defects⁣

● Depigmented fundus⁣

● 𝐅𝐨𝐯𝐞𝐚𝐥 𝐡𝐲𝐩𝐨𝐩𝐥𝐚𝐬𝐢𝐚 - absence of the foveal pit⁣

1. RPE pigmentation is inappropriate for macular development⁣

2. OCT will show absence of normal foveal pit⁣

3. Foveal avascular zone is small or coexistent with vessels crossing the area 2 disc⁣

diameter temporal to the optic disc margin⁣

4. Contributes to poor visual acuity⁣

● Abnormal decussation of the visual pathway⁣

1. Crossing of upto 90% of the fibres at the chiasma to the contralateral side⁣

2. Loss of stereopsis and strabismus⁣

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𝘊𝘰𝘮𝘮𝘰𝘯 𝘴𝘺𝘴𝘵𝘦𝘮𝘪𝘤 𝘢𝘴𝘴𝘰𝘤𝘪𝘢𝘵𝘪𝘰𝘯𝘴:⁣

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1. Hermansky Pudlak syndrome (platelet storage deficiency)⁣

2. Chediak-Higashi syndrome (abnormal lysosomal trafficking- recurrent infections)⁣

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𝘛𝘳𝘦𝘢𝘵𝘮𝘦𝘯𝘵:⁣

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● Recognize refractive errors and treat to minimize amblyopia⁣

● Low vision examination and visual rehabilitation⁣

● Sunglasses to reduce photosensitivity⁣

● Prisms can help reduce nystagmus⁣

● Genetic counselling⁣

● Surgery to align the eyes, when necessary⁣

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Image from Rajan Eye Care Hospital

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