Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2016
Concordance of visual and structural features between siblings with albinism.
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Heinmiller Laura J, Holleschau Ann, Summers C Gail
Аннотация
PURPOSE: To evaluate similarities and differences in visual function and ocular structure between siblings with albinism.
METHODS: The medical records of all siblings diagnosed with albinism were retrospectively reviewed. Comparisons were made using examination at oldest age for younger sibling and examination closest to that age for older siblings.
RESULTS: A total of 111 patients from 54 families were studied. Mean age was 12.9 years (range, 2 months to 44.2 years). Mean difference in ages between sibling pair examinations was 11.5 months (range, 0-87 months). Of 45 families, best-corrected visual acuity was equal in 9 (20%), within 1/2 octave in 9 (20%), >1/2 but <1 octave in 21 (47%), and ≥1 octave difference in 6 (13%). Of 27 families, stereoacuity was present in all siblings in 9 (33%), absent in 9 (33%), and present in only 1 sibling in 9 (33%). Of 54 families, grading of iris translucency was equal in 35 (65%) and different by 1 grade in 19 (35%). Of 54 families, foveal grading was equal in 39 (72%), different by 1 grade in 14 (26%), and different by ≥2 grades in 1 (2%). Macular melanin was present in all siblings in 16 of the 54 families (30%), absent in all siblings in 36 (67%), and present in only 1 sibling in 2 (4%) families.
CONCLUSIONS: The strong concordance of structural features is contrasted with discordance in visual function. Families of siblings with albinism should be counseled with due caution because visual function is often disparate despite similar structural findings.
METHODS: The medical records of all siblings diagnosed with albinism were retrospectively reviewed. Comparisons were made using examination at oldest age for younger sibling and examination closest to that age for older siblings.
RESULTS: A total of 111 patients from 54 families were studied. Mean age was 12.9 years (range, 2 months to 44.2 years). Mean difference in ages between sibling pair examinations was 11.5 months (range, 0-87 months). Of 45 families, best-corrected visual acuity was equal in 9 (20%), within 1/2 octave in 9 (20%), >1/2 but <1 octave in 21 (47%), and ≥1 octave difference in 6 (13%). Of 27 families, stereoacuity was present in all siblings in 9 (33%), absent in 9 (33%), and present in only 1 sibling in 9 (33%). Of 54 families, grading of iris translucency was equal in 35 (65%) and different by 1 grade in 19 (35%). Of 54 families, foveal grading was equal in 39 (72%), different by 1 grade in 14 (26%), and different by ≥2 grades in 1 (2%). Macular melanin was present in all siblings in 16 of the 54 families (30%), absent in all siblings in 36 (67%), and present in only 1 sibling in 2 (4%) families.
CONCLUSIONS: The strong concordance of structural features is contrasted with discordance in visual function. Families of siblings with albinism should be counseled with due caution because visual function is often disparate despite similar structural findings.