Chiasmal misrouting and foveal hypoplasia without 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 کاملA new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1
PURPOSE We have previously described two families with unique phenotypes involving foveal hypoplasia. The first family (F1) presented with foveal hypoplasia and anterior segment dysgenesis, and the second family (F2) presented with foveal hypoplasia and chiasmal misrouting in the absence of albinism. A genome-wide linkage search in family F1 identified a 6.5 Mb locus for this disorder on chromo...
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 کاملVisual-evoked potential evidence of chiasmal hypoplasia.
PURPOSE To show that chiasmal hypoplasia or aplasia need not be an isolated developmental anomaly and to examine the spectrum of associated clinical findings to explore the possibility that these patients may represent a phenotypic manifestation of a developmental gene anomaly. DESIGN An observational case series. PARTICIPANTS Five infants, between several weeks and 7 months of age, in whom...
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...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 2006
ISSN: 0007-1161
DOI: 10.1136/bjo.2006.091702