Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Congenital macular scars in siblings from CLDN19 mutations.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Oct 2021

Kang Terry S, Siegel Lance M

Abstract excerpt

We report 2 consecutive siblings who presented with unilateral and bilateral macular scars, respectively (initially presumed in the older sibling to be from congenital toxoplasmosis), who also developed chronic kidney disease. Both underwent genetic testing and were positive for a mutation in CLDN19, confirming the diagnosis of familial hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cicatrix
Share to Claudins
Share to Eye Diseases, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Macula Lutea

Share to Mutation

Share to Renal Tubular Transport, Inborn Errors

Share to Siblings

Source

Identifiers

PMID: 34425238
DOI: 10.1016/j.jaapos.2021.05.008

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Congenital macular scars in siblings from CLDN19 mutations.PMID 34425238Read ↗

Further evidence that a specific homozygous CLDN19 variant results in non-syndromic maculopathy and can be mistaken for prior ocular toxoplasmosis infection.Semantic proximity Read ↗

Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations.Semantic proximity Read ↗

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: variable phenotypic expression in three affected sisters from Mexican ancestry.Semantic proximity Read ↗

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC): report of three cases with a novel mutation in CLDN19 gene.Semantic proximity Read ↗

Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation.Semantic proximity Read ↗

Heterogeneity is a common ground in familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutations.Semantic proximity Read ↗

Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features.Semantic proximity Read ↗

Tracing a Rare Genetic Disease: Familial Congenital CD59 Deficiency and Carrier Cases Identified Through Village Screening.Semantic proximity Read ↗

A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings.Semantic proximity Read ↗

Mutation in the tight-junction gene claudin 19 (CLDN19) and familial hypomagnesemia, hypercalciuria, nephrocalcinosis (FHHNC) and severe ocular disease.Semantic proximity Read ↗

Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.Semantic proximity Read ↗

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.