Bilateral microphthalmos with poor visual acuity, high hyperopia, and papillomacular retinal folds in siblings.
Ophthalmological examinations were carried out on a 4-year old girl and her 2-year-old brother who have had poor visual acuity since birth. A consanguineous relationship was found between the parents. Both children had bilateral microphthalmos, poor visual acuity, high hyperopia, and papillomacular retinal folds. No ocular coloboma or systemic abnormality was found. We believe that the ophthalmic findings in these patients are rare.
Kida
Y
Y
Department of Ophthalmology, Shimane Medical University, Japan.
Kurome
H
H
Hayasaka
S
S
D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D006956:Hyperopia / Q000235:genetics*; D008266:Macula Lutea / Q000473:pathology*; D008297:Male; D008850:Microphthalmos / Q000000981:diagnostic imaging / Q000235:genetics*; D009898:Optic Disk / Q000473:pathology*; D010375:Pedigree; D012164:Retinal Diseases / Q000235:genetics* / Q000473:pathology; D014463:Ultrasonography; D014786:Vision Disorders / Q000235:genetics*; D014792:Visual Acuity