Accommodative esotropia: An outcome analysis from a tertiary center in Oman.

AIM: The aim of this study is to determine the outcome of accommodative esotropia (ET) and influencing factors in young Omani children. SUBJECTS AND METHODS: In this retrospective cohort, children diagnosed with accommodative ET who had followed up in a tertiary hospital from 2006 to 2011 were identified. Parameters studied included cycloplegic refraction and its change with time, ocular alignment, binocularity, visual acuity (VA), amblyopia, and requirement for surgery. RESULTS: A total of 51 patients were identified. Twenty-four patients were diagnosed with fully accommodative ET (FAET) and 27 with partially accommodative ET (PAET). The mean (± standard deviation [SD]) age of onset and reporting were 2.6 (±1.58) and 3.2 (±1.84) years in the two groups, respectively. The mean (SD) cycloplegic refraction at presentation was 4.50 (±1.66) in the FAET group and 3.65 (±1.67) in the PAET group. Anisometropia was present in 28% of patients. The mean follow-up period was 4.9 years. The following were detected in the final visit. A reduction in amblyopia from 43% to 6% of patients, binocularity in 75% of patients, and a mean increase of 0.64 (±1.3) D in cycloplegic refraction from the first visit (P = 0.005). The mean angle of deviation at near and distance was 29.86 (±15.21) and 17.80 (±10.14) prism diopters, respectively, in FAET patients and 30.15 (±14.83) and 29.53 (±15.53), respectively, in PAET patients. Thirty-seven percent of the PAET patients underwent surgery within 5 years from diagnosis. All participants in this cohort continued to wear glasses in the last follow-up visit. CONCLUSION: Most children with refractive accommodative ET have an excellent outcome in terms of VA and binocular vision. The PAET group was characterized by delayed reporting, the presence of anisometropia, and lower hypermetropia. Further study is required to determine the possibility of weaning glasses in FAET patients.

Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (PQBP1) gene.

Background: Patients with intellectual disability syndromes frequently have coexisting abnormalities of ocular structures and the visual pathway system. The microphthalmos, anophthalmos, and coloboma (MAC) spectrum represent structural developmental eye defects that occur as part of a syndrome in one-third of cases. Ophthalmic examination may provide important diagnostic clues in identifying these syndromes.Purpose: To provide a detailed and comprehensive description of the microphthalmos, anophthalmos, and coloboma (MAC) spectrum in two brothers with intellectual disability and dysmorphism.Methods: The two brothers underwent a detailed ophthalmic and systemic evaluation. A family pedigree was obtained and exome sequencing was performed in the proband.Results: The two brothers aged 4 and 7 years had intellectual disability, microcephaly, short stature, and characteristic dysmorphic features. Ophthalmic evaluation revealed the presence of the MAC spectrum in both boys. Genetic testing led to the detection of an X-linked hemizygous truncating mutation in the nuclear polyglutamine-binding protein 1 (PQBP1) gene confirming the diagnosis of X-linked recessive Renpenning syndrome.Conclusion: The presence of X-linked intellectual disability and characteristic dysmorphism, in a patient with the MAC spectrum should raise the suspicion of Renpenning syndrome. PQBP1 mutation testing is confirmatory. A comprehensive systemic evaluation is mandatory in all patients with the MAC spectrum and intellectual disability.

Fresh frozen plasma (Octaplas) and topical heparin in the management of ligneous conjunctivitis.

Ligneous conjunctivitis is a rare form of chronic recurrent membranous conjunctivitis with reduced plasminogen activity. It is characterized by the formation of characteristic firm ("woody") membranes on the tarsal conjunctiva. Similar lesions may occur on other mucous membranes. When treated with local excision, ligneous conjunctivitis is invariably associated with recurrences. Various therapeutic modalities, including topical heparin, cyclosporine, fresh frozen plasma (FFP), plasminogen, and amniotic membrane transplantation have been reported to reduce postoperative recurrences. We present 2 cases of recurrent ligneous conjunctivitis in children successfully managed with surgical excision under cover of FFP transfusion, amniotic membrane grafting, and combined with concomitant postoperative administration of topical heparin, steroids.

Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.

AIM: To report co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings in an Omani family. BACKGROUND: Biallelic mutations in the MFRP gene (chromosome 11q23) result in a distinct ocular phenotype characterized by retinitis pigmentosa, foveoschisis, optic nerve head drusen, and posterior microphthalmos. GSD-1b is an autosomal-recessive disorder caused by mutations in SLC37A4 gene located in the same chromosomal region. METHODS: An Omani family with three siblings diagnosed with GSD-1b presented with ocular manifestations of progressive visual impairment and diminution of night vision. All siblings underwent a standard ophthalmic and clinical genetic evaluation. Full sequencing of the MFRP and SLC37A4 genes and haplotype analysis was carried out. RESULTS: The three children (2F:1M) aged 13, 17, and 18 years were born to consanguineous parents. Their best-corrected visual acuity ranged from 20/60 to 20/15. Ophthalmic exam revealed bilateral optic disc drusen, foveoschisis, and pigmentary retinopathy, hyperopia of +12 to +15.5 diopters, and decreased axial length (15.8-16.39 mm) in all affected siblings. Full-field electroretinography showed rod-cone dysfunction. Sequence analysis revealed two novel variants in a homozygous state in the SLC37A4 and MFRP genes in all the affected patients. CONCLUSIONS: We report the MFRP-related ocular phenotype in three siblings with GSD-1b. Molecular genetic studies identified novel mutations in the MFRP and SLC37A4 genes. Co-inheritance of a haplotype harboring mutations in both loci on chromosome 11q23 resulted in co-occurrence of the MFRP-related ocular phenotype and GSD-1b. This has not been reported previously.