Search

Competing Interests: Competing interests: None declared.

Purpose: To describe the clinical features of members of a family with acorea, microphthalmia and cataract syndrome. In addition, to perform linkage analysis on family members to determine possible candidate genes., Methods: Comprehensive ophthalmic examinations were performed on five affected members of a family consisting of a paternal grandmother, father and three children. In addition, DNA was extracted from nine family members (the five affected and four normal members) and used for genome-wide single nucleotide polymorphism genotyping and linkage analysis., Results: All of the affected patients had acorea or fibrous occlusion of the pupil, microphthalmia and cataracts in both eyes. They also had microcornea and iridocorneal dysgenesis. Examination of the crystalline lens was hindered by the abnormal iris surface, but cataracts were detected by ultrasound biomicroscopy. Surgical reconstruction of the pupil allowed a better view of the posterior pole of the eye, and ophthalmoscopy showed a normal retina and optic disc. No systemic abnormalities were observed. Linkage analysis did not reach significance but narrowed the location of possible candidate genes to chromosomes 1, 5, 8, 11 and 17., Conclusions: This acorea, microphthalmia and cataract syndrome has not previously been reported. Genetic analyses indicate that this syndrome is probably due to an autosomal dominant mutation.

Background: A de novo mutation of the ACTA2 gene encoding the smooth muscle cell α-actin has been established in patients with multisystemic smooth muscle dysfunction syndrome associated with patent ductus arteriosus and mydriasis present at birth., Objective: To describe the structural ocular findings in three Danish children with this new syndrome and evaluate the possible functional consequences for visual development of the poorer imaging condition., Results: Unresponsive mydriatic pupils with scalloping wisps of persistent pupillary membrane from the iris collarette were an early indicator of this rare genetic disorder in all three cases. Tortuousity of retinal arterioles was the main posterior pole finding, apparent during the first year of life and with a tendency to increase with age. In one case, it progressed to an aneurysmal-like state with breakdown of the blood-retinal barrier., Conclusions: Congenital mydriasis is an extremely rare pupil anomaly and is the feature for the early diagnosis of this new syndrome. The ophthalmologist should act in close collaboration with other specialists owing to the risk of aortic and cerebrovascular diseases and other complications associated with this disorder.