ABSTRACT
AIMS: To report the clinical phenotype in a series of four children from three families with the rare association of high myopia, central macular atrophy, and normal full-field electroretinography (ERG). METHODS: Four male patients were ascertained with reduced vision, nystagmus, and atrophy of the macula from early childhood. Patients underwent full ophthalmic examination, electrophysiological testing, and retinal imaging. RESULTS: Minimum duration of follow-up was 8 years. At last review, visual acuity ranged from 0.22 to 1.20 logMAR (6/9.5-6/95 Snellen) at a mean age of 10.5 years (median 9.5 years, range 9-14 years). Refractive error ranged from a spherical equivalent of -7.40 D to -24.00 D. Three had convergent squint. Fundus examination and imaging demonstrated bilateral macular atrophy in all patients that varied from mild atrophy of the retinal pigment epithelium (RPE) to well-demarcated, punched-out atrophic lesions of retina, RPE, and choroid. Flash ERG was normal under photopic and scotopic conditions in all patients. Pattern ERG, performed in three patients, was consistent with mild to severe macular dysfunction. Progression of the area of atrophy was evident in one patient and of the myopia in two patients but all patients had stable visual acuity. CONCLUSIONS: Patients with congenital high myopia and macular atrophy present in infancy with reduced visual acuity and nystagmus. The macular atrophic lesions vary in size and severity but electrophysiological testing is consistent with dysfunction confined to the macula. There was no deterioration in visual acuity over 8-10 years of monitoring.
Subject(s)
Corneal Dystrophies, Hereditary/diagnosis , Myopia, Degenerative/diagnosis , Nystagmus, Pathologic/diagnosis , Adolescent , Child , Electroretinography , Fluorescein Angiography , Follow-Up Studies , Humans , Male , Myopia, Degenerative/congenital , Phenotype , Photic Stimulation , Retina/physiology , Siblings , Vision Disorders/diagnosis , Visual Acuity/physiology , Visual FieldsABSTRACT
BACKGROUND: Four cases of congenital high myopia showing similar myopic fundus changes. CASES: The clinical characteristics of four cases of congenital high myopia are presented, and the long-term course of one of these cases is described. OBSERVATIONS: One patient had a history of preterm delivery; however, the remaining patients had no ocular or systemic abnormalities that could account for the congenital myopia. All of the cases showed similar fundus findings, including tilting of the optic disc, temporal conus, and tessellated fundus. A type II posterior staphyloma was found in three of the cases. All of the patients had best-corrected visual acuity (BCVA) ≥ 0.4. One patient was followed for 30 years (from 6 to 36 years of age), and during those 30 years, the posterior fundus showed only a slight enlargement of a myopic conus and slight increase of the tilting of the optic disc despite a 3.0-mm increase in the axial length, and final BCVA was 1.0 OU. CONCLUSIONS: Long-term follow-up showed that the posterior fundus did not change radically and good vision as maintained in spite of a significant increase in the axial length.
