Variable clinical profile of foveal hypoplasia in albinism
نویسندگان
چکیده
منابع مشابه
Foveal hemorrhage in an eye with foveal hypoplasia associated with albinism
Oculocutaneous albinism is a group of congenital disorders caused by alterations of melanin biosynthesis. We report our findings in a patient with oculocutaneous albinism who presented with foveal hypoplasia and a foveal hemorrhage. A 48-year-old man noted a dark spot in the middle of the visual field of his right eye. He had depigmented skin, white hair, white eyebrows, and white cilia. He als...
متن کاملIsolated foveal hypoplasia.
Fifteen patients presented with foveal hypoplasia as an isolated ocular finding. The characteristic findings associated with this entity are a visual acuity of 6/21 or worse, nystagmus, and a typical ophthalmoscopic appearance of the macular area, including absent or abnormal maculofoveal reflexes, unclear definition of the maculofoveal area, and capillaries running abnormally close to the pres...
متن کاملArrested development: High-resolution imaging of foveal morphology in albinism
Albinism, an inherited disorder of melanin biosynthesis, disrupts normal retinal development, with foveal hypoplasia as one of the more commonly associated ocular phenotypes. However the cellular integrity of the fovea in albinism is not well understood - there likely exist important anatomical differences that underlie phenotypic variability within the disease and that also may affect responsi...
متن کاملRelationship between foveal cone specialization and pit morphology in albinism.
PURPOSE Albinism is associated with disrupted foveal development, though intersubject variability is becoming appreciated. We sought to quantify this variability, and examine the relationship between foveal cone specialization and pit morphology in patients with a clinical diagnosis of albinism. METHODS We recruited 32 subjects with a clinical diagnosis of albinism. DNA was obtained from 25 s...
متن کاملCLINICAL SCIENCES Abnormal Foveal Morphology in Ocular Albinism Imaged With Spectral-Domain Optical Coherence Tomography
Methods: Spectral-domain OCT imaging was performed on study subjects in 3 groups: subjects with ocular albinism (OA) or suspected OA with foveal hypoplasia, with nystagmus, and with or without iris transillumination; a subject with oculocutaneous albinism and Hermansky-Pudlak syndrome; and control subjects. Dense volumetric scans of each fovea were captured using standard and handheld spectral-...
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ژورنال
عنوان ژورنال: Indian Journal of Ophthalmology
سال: 2020
ISSN: 0301-4738
DOI: 10.4103/ijo.ijo_905_19