Dataset Information

Clinical and imaging findings of choroideremia in a pediatric patient due to a novel frameshift mutation.

ABSTRACT:

Purpose

To describe the clinical characteristics, imaging findings and genetic testing results of a young simplex male with choroideremia.

Observations

A 6-year-old Hispanic-Chinese male was referred to the retina clinic for peripheral retinal pigmentary changes observed in both eyes on routine exam. The patient has an unremarkable family history and developmental history. Best corrected visual acuity was 20/25 in both eyes. Optical coherence tomography demonstrated attenuation of the ellipsoid and interdigitation zones. Widefield fundus autofluorescence demonstrated nummular hypo-autofluorescence peripherally in both eyes. Genetic testing revealed a variant originally described as a variant of uncertain significance (VUS) a c. 1775_1814del (p.Glu592Valfs*44) identified in the CHM gene, which was reclassified as pathogenic following segregation analysis. The patient was diagnosed with choroideremia due to a CHM pathogenic variant.

Conclusions

The multimodal imaging findings demonstrated here illustrate important clues to the diagnosis of Choroideremia in a simplex male.

SUBMITTER: Moussa MT

PROVIDER: S-EPMC9562444 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature

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Publications

Clinical and imaging findings of choroideremia in a pediatric patient due to a novel frameshift mutation.

Moussa Michael T MT Scoles Drew D Branham Kari K Fahim Abigail T AT Capone Antonio A

American journal of ophthalmology case reports 20221006

<h4>Purpose</h4>To describe the clinical characteristics, imaging findings and genetic testing results of a young simplex male with choroideremia.<h4>Observations</h4>A 6-year-old Hispanic-Chinese male was referred to the retina clinic for peripheral retinal pigmentary changes observed in both eyes on routine exam. The patient has an unremarkable family history and developmental history. Best corrected visual acuity was 20/25 in both eyes. Optical coherence tomography demonstrated attenuation of ...[more]

PMID: 36247208

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Project description:BackgroundSome juvenile idiopathic arthritis (JIA) patients have a familial aggregation of the disease, and a few have been found to have a juvenile arthritis (JA) phenotype caused by a genetic mutation. JA due to LACC1 defects is a rare condition and it was never reported in China.MethodsThe clinical and molecular characteristics of a child with LACC1 gene mutation-related juvenile arthritis, diagnosed by high-throughput sequencing in Wuhan children's Hospital in 2021 were analyzed retrospectively; The literature and database were reviewed to summarize the clinical data and genotype characteristics of patients with JA caused by LACC1 gene mutation.ResultsHere, we report a 19-month-old Chinese male patient who presented with bilateral limb edema without a history of fever. Laboratory tests showed had moderate anemia and signs of inflammation: hemoglobin of 76 g/L, white blood cell count of 20.53 × 109 , and platelet count of 1194 × 109 ; MRI showed the patient had synovitis and tenosynovitis in bilateral hands and wrists. Whole-exome sequencing (WES) detected compound heterozygous variants, novel c.446_449dupTAAA and c.889T>C, in the LACC1 gene. Of the 52 patients reported in the literature (including this case), 38.9% had clinical symptoms of systemic juvenile idiopathic arthritis (sJIA), which tended to be caused by loss-of-function (LOF) mutation. Findings in this study expanded the spectrum of pathogenic variants and reveal the phenotypic heterogeneity of LACC1-JA.ConclusionsOur study reported a rare case of juvenile arthritis, which is due to the compound heterozygous mutation of LACC1, including a new novel frameshift mutation c.446_449dupTAAA, and LACC1 C297R variant causes disease by potentially modifying the local conformation of proteins. The clinical and genetic findings in our study show that LACC1-JA is highly heterogeneous, and gene testing is required for juvenile arthritis patients with a high inflammatory response at a young onset age.

Dataset Information

Clinical and imaging findings of choroideremia in a pediatric patient due to a novel frameshift mutation.

Purpose

Observations

Conclusions

Publications

Clinical and imaging findings of choroideremia in a pediatric patient due to a novel frameshift mutation.

Similar Datasets

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