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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Posterior segment changes associated with posterior microphthalmos.

PURPOSE: To characterize and analyze the posterior segment ocular involvement in patients with posterior microphthalmos. DESIGN: Retrospective observational case series. PARTICIPANTS: Eighteen patients (8 sporadic cases and 10 siblings from 5 different families) between the age of 4 and 36 years with posterior microphthalmos. METHODS: Records of patients with posterior microphthalmos over a 5-year-period were reviewed, including clinical, fundus photographic, fluorescein angiographic, and ultrasonographic findings, and management. RESULTS: All patients had bilateral foreshortening of the posterior ocular segment (range, 7--11.2 mm) with associated high hyperopia (range, +12.00--+19.00 diopters) and normal or slightly smaller than normal anterior segment dimensions. Visual acuity ranged from 20/200 to 20/40. Inheritance of this syndrome was compatible with an autosomal recessive pattern. Posterior segment changes included bilateral elevated papillomacular retinal fold (13 patients, 72.2%); fine retinal folds (6 patients, 33.3%); chorioretinal folds (11 patients, 61.1%); uveal effusion syndrome (3 patients, 16.7%); pigmentary retinopathy (4 patients, 22.2%), including retinitis punctata albescens in 1 patient; absence or marked reduction of the capillary-free zone (18 patients, 100%); crowded optic discs (18 patients, 100%); and sclerochoroidal thickening on ultrasonography (18 patients, 100%). Two patients with uveal effusion were successfully treated with scleral surgery. CONCLUSION: A wide variety of congenital or acquired posterior segment changes may be encountered in patients with posterior microphthalmos. Although high hyperopia and elevated papillomacular retinal fold are the main causes of visual impairment, other chorioretinal changes, such as pigmentary retinopathy, chorioretinal folds and uveal effusion syndrome, should be considered as causes of visual disturbance in patients with posterior microphthalmos. Early ultrasonographic diagnosis, close follow-up, and appropriate management are mandatory to improve or maintain visual function in such patients.[1]


  1. Posterior segment changes associated with posterior microphthalmos. Khairallah, M., Messaoud, R., Zaouali, S., Ben Yahia, S., Ladjimi, A., Jenzri, S. Ophthalmology (2002) [Pubmed]
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