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Journal: Ophthalmic genetics


Abstract Background: Methylmalonic aciduria and homocystinuria type C (cblC), a disorder of vitamin B12 (cobalamin) metabolism caused by mutations in the MMACHC gene, presents with many systemic symptoms, including neurological, cognitive, psychiatric, and thromboembolic events. Retinal phenotypes, including maculopathy, pigmentary retinopathy, and optic atrophy are common in early onset form of the disease but are rare in adult onset forms. Materials and Methods: An adult Hispanic female presented with decreased central vision, bilateral pericentral ring scotomas and bull’s eye-appearing macular lesions at 28 years of age. Her medical history was otherwise unremarkable except for iron deficiency anemia and both urinary tract and kidney infections. Screening of the ABCA4 gene, mutations in which frequently cause bull’s eye maculopathy, was negative. Subsequently, analysis with whole exome sequencing was performed. Results: Whole exome sequencing discovered compound heterozygous mutations in MMACHC, c.G482A:p.Arg161Gln and c.270_271insA:p.Arg91Lysfs*14, which segregated with the disease in the family. The genetic diagnosis was confirmed by biochemical laboratory testing, showing highly elevated urine methylmalonic acid/creatinine and homocysteine levels, and suggesting disease management with hydroxycobalamin injections and carnitine supplementation. Conclusions: In summary, a unique case of an adult patient with bull’s eye macular lesions and no clinically relevant systemic symptoms was diagnosed with cblC by genetic screening and follow-up biochemical laboratory tests.

Concepts: Genetics, Anemia, Folic acid, Vitamin B12, Iron deficiency anemia, Genetic disorders, Methylmalonic acid, Methylmalonic acidemia


Neurofibromatosis type 1 (NF-1) is an autsomal dominant disorder which can occasionally result from somatic mosaicism and manifest as segmental forms of the disease.

Concepts: Neurofibromatosis type I, Café au lait spot


To evaluate the benefits of phacoemulsification and intraocular lens implantation in patients with oculocutaneous albinism (OCA).

Concepts: Lens, Intraocular lens, Albinism, Oculocutaneous albinism


Insulin-like growth factor 1 (IGF1) and insulin-like growth factor 1 receptor (IGF1R) have been shown to influence the development of form-deprivation myopia. However, genetic association between these two genes and high myopia remains inconsistent in different studies. This study was conducted to investigate the association between IGF1and IGF1R and high myopia in a Han Chinese population.

Concepts: Gene, Genetics, Gene expression, Biology, Insulin-like growth factor 1, Han Chinese, People's Republic of China, Insulin-like growth factor


Early-onset retinal dystrophy is usually isolated but can also be the presenting manifestation of an undiagnosed systemic disease. The purpose of this report is to highlight the initial presentation of a girl with early-onset retinal dystrophy and chronic dermatitis who was found to have an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG).


Autosomal-dominant optic atrophy (ADOA) is one of the most common types of inherited optic atrophy. We identify OPA1 pathogenic variants and assess the clinical features of a cohort of Chinese ADOA patients Materials and Methods: Detailed clinical evaluations were performed and genomic DNA was extracted from peripheral blood for all the participants. Sanger sequencing was used to analyze all exons and exon/intron junctions of OPA1 for eight pedigrees. Target exome capture plus next-generation sequencing (NGS) were applied for one atypical family with photophobia. Reverse transcription polymerase chain reaction was carried out to further characterize the mRNA change of selected splicing alteration.


Cosmetic dissatisfaction, pain, and chronic discharge may present months till years after enucleation in patients operated because of retinoblastoma. If noninvasive treatment modalities are insufficient, socket reconstruction can be considered. In this study, we discuss the results of dermis-fat exchange to treat these problems.


High intake of vitamin A is suspected to be a risk factor for the progression of Stargardt disease (STGD1) and many health authorities recommend Stargardt patients not to use oral vitamin A supplements outside that provided naturally in the food. The present study provides the first systematic review of the current level of evidence regarding the role of supplementary vitamin A in STGD1.


To test the effect of docosahexanoic acid (DHA) dietary supplementation on macular function in patients with Stargardt disease.


22q11.2 microduplication is a relatively recently recognized syndrome. Findings in affected individuals range from apparent normality to a wide variety of systemic and ocular conditions. We describe the association between 22q11.2 microduplication and juvenile glaucoma in two brothers.