Esotropia Outcomes and the Influence of Delay to Wearing Full Hypermetropic Correction.

PURPOSE: To assess whether delay to full hypermetropic correction wear in children might influence the outcome of a diagnosis of full versus partially accommodative esotropia. METHODS: All children younger than 7 years who were referred with possible strabismus over a 1-year period were assessed. A standard set of details were documented: age at which esotropia was first noticed, age at which esotropia was confirmed by an orthoptist, age at which glasses were prescribed, and age at which full refractive error was constantly worn. When full-time hypermetropic correction was worn, the type of esotropia was determined. RESULTS: There were 430 children referred. Of these, 117 had a concomitant esotropia (62 males and 55 females). Esotropia was confirmed at 35.47 ± 16.67 months of age (range: 4 to 78 months). There were 51 children (43.6%) with full accommodative esotropia, 57 (48.7%) with partially accommodative esotropia, and 9 (7.7%) with nonaccommodative esotropia. Longer delays between the time at which esotropia was identified and the time at which glasses were prescribed were associated with a reduced likelihood of an outcome of full versus partially accommodative esotropia (odds ratio [OR] = 0.73, 95% confidence interval [CI] = 0.58 to 0.93). Delay to glasses wear for full and partially accommodative esotropia was 1.94 ± 6.4 and 6.24 ± 8.36 months, respectively. Higher average spherical correction scores were associated with a higher likelihood of being in the full accommodative esotropia group (OR = 1.35, 95% CI = 1.07 to 1.69). CONCLUSIONS: A child with recent onset concomitant esotropia is more likely to achieve full versus partially accommodative esotropia if the delay to full hypermetropic corrective glasses wear is minimized. [J Pediatr Ophthalmol Strabismus. 2020;57(2):85-89.].

Mutational Analysis of the Rhodopsin Gene in Sector Retinitis Pigmentosa.

BACKGROUND: To determine the role of rhodopsin (RHO) gene mutations in patients with sector retinitis pigmentosa (RP) from Northern Ireland. DESIGN: A case series of sector RP in a tertiary ocular genetics clinic. PARTICIPANTS: Four patients with sector RP were recruited from the Royal Victoria Hospital (Belfast, Northern Ireland) and Altnagelvin Hospital (Londonderry, Northern Ireland) following informed consent. METHODS: The diagnosis of sector RP was based on clinical examination, International Society for Clinical Electrophysiology of Vision (ISCEV) standard electrophysiology, and visual field analysis. DNA was extracted from peripheral blood leucocytes and the coding regions and adjacent flanking intronic sequences of the RHO gene were polymerase chain reaction (PCR) amplified and cycle sequenced. MAIN OUTCOME MEASURE: Rhodopsin mutational status. RESULTS: A heterozygous missense mutation in RHO (c.173C > T) resulting in a non-conservative substitution of threonine to methionine (p. Thr58Met) was identified in one patient and was absent from 360 control individuals. This non-conservative substitution (p.Thr58Met) replaces a highly evolutionary conserved polar hydrophilic threonine residue with a non-polar hydrophobic methionine residue at position 58 near the cytoplasmic border of helix A of RHO. CONCLUSIONS: The study identified a RHO gene mutation (p.Thr58Met) not previously reported in RP in a patient with sector RP. These findings outline the phenotypic variability associated with RHO mutations. It has been proposed that the regional effects of RHO mutations are likely to result from interplay between mutant alleles and other genetic, epigenetic and environmental factors.

Pediatric retinal detachment in cutis aplasia and cutis marmorata telangiectasia.

PURPOSE: This is a report of 2 cases of cutis aplasia and cutis marmorata telangiectasia with associated retinal detachment. METHODS: Retrospective case report. RESULTS: Illustration of ophthalmic associations of the rare congenital dermatologic presentations and description of successful treatment with laser photocoagulation. CONCLUSIONS: Awareness of the association between retinal detachment and cutis aplasia and cutis marmorata should be acted upon as laser photocoagulation has been shown in this case report to successfully treat the associated retinal detachment.