The nanophthalmic macula

• Published in: British journal of ophthalmology Vol. 82; no. 3; pp. 276 - 279
• Main Authors: Serrano, J C, Hodgkins, P R, Taylor, D S I, Gole, G A, Kriss, A
• Format: Journal Article
• Language: English
• Published: BMA House, Tavistock Square, London, WC1H 9JR BMJ Publishing Group Ltd 01.03.1998; BMJ; BMJ Publishing Group LTD
• Subjects: Abnormalities, Multiple - pathology; Adolescent; Biological and medical sciences; Child; Child, Preschool; Cysts; Humans; Infant; Kenny’s syndrome; Laboratories; Macula Lutea; Macular degeneration; maculopathy; Male; Malformations of the eye; Medical sciences; Microphthalmos - complications; Myopia; nanophthalmos; Ophthalmology; Original articles - Clinical science; Patients; Retinal Diseases - etiology; Retinal Diseases - pathology; Syndrome; Ultrasonic imaging; Human; Macula; Eye disease; Retinopathy; Malformation; Retinal fold; Maculopathy; Congenital disease; Genetic determinism; Child; Pigmentation
• ISSN: 0007-1161; 1468-2079
• DOI: 10.1136/bjo.82.3.276

AIMS To define an unusual macular appearance found in association with nanophthalmos. METHODS A case review. RESULTS Seven children (aged 8 months to 17 years) with nanophthalmos were examined. They all exhibited the same clinical findings of an unusual yellow macula appearance with retinal folds and crowded optic discs. Visual electrophysiology performed in four cases was normal. CONCLUSION A distinctive yellow macular pigmentation with associated chorioretinal folds and crowded optic discs is present in nanophthalmos. It is proposed that the retinal folds are due to a disparity between scleral and retinal growth while the macula discoloration is due to a congenital abnormality in arrangement or position of the luteal pigment and is not degenerative. Included in this case series is the second case in the literature of nanophthalmos associated with Kenny’s syndrome. Inheritance of nanophthalmos appears to be autosomal recessive.