CaseControlLabel: Aggregated *RPE65 variants in 187 apparently-unrelated Chinese probands from 16 provinces of China diagnosed with LCA by retina specialists and 200 ethnically matched apparently-unrelated healthy control individuals.

CaseCohortLabel: 187 apparently-unrelated Chinese probands from 16 provinces of China diagnosed with LCA by retina specialists

ControlCohortLabel: 200 ethnically matched apparently-unrelated healthy control individuals

CaseControlPhenotype: HP:0003593 (Infantile onset), HP:0030555 (Best corrected visual acuity 0.2 LogMAR)

CaseControlPhenotypeFreeText: The above phenotypes are noted only for the subset of LCA patients later found to have RPE65-related disease. Age at onset was within the first few months after birth. The best corrected visual acuity for individuals over 30 years old was less than 0.2, with few exceptions.

CaseControlNOTPhenotype: N/A

CaseDemographics: Country of origin for all case and control individuals is China, with recruitment area including all 16 provinces. Numbers of males and females, race, and age range are unspecified.

ControlDemographics: Control individuals are stated to be ethnically matched to the cases, but details are not provided.

CaseMethod: Previous testing for cases appears to have been limited to diagnosis of Leber's congenital amaurosis by a retina expert. Genotyping method was Sanger sequencing of PCR products from all 14 exons of RPE65. Targeted exome sequencing (194-gene panel) appears to have been performed for a subset of affected cases harboring RPE65 variants.

ControlMethod: Previous testing was not described. Genotyping method was Sanger sequencing of PCR products from all 14 exons of RPE65.

CasePower: 187 cases were genotyped, and 14 were found to harbor RPE65 variants (12 biallelic and 2 apparently monoallelic), with 11 cases predicted to harbor biallelic pathogenic RPE65 variants.

ControlPower: The number of control individuals who harbored a variant in RPE65 is not mentioned.

CaseAddInfo: Cases may have overlapped with other studies of Leber congenital amaurosis in Chinese cohorts (PMID: 29133760, PMID: 25356976, PMID: 26047050, PMID: 23661369, PMID: 22509104, PMID: 25383945, PMID: 21602930, PMID: 23661368, PMID: 28393863). The possibility of overlap is not addressed in the text.

ControlAddInfo: Overlap of the control cohort with other PMIDs is not reported.

CaseControlEvaluation: The study type is Aggregate analysis. The study used Sanger sequencing of the 14 exons of the RPE65 gene as the detection method. Cases counted were those found to harbor biallelic RPE65 variants that were predicted to be pathogenic at the protein level or demonstrated to have transcript-level impact through a minigene in vitro splicing assay.

CaseControlStats: Test statistic value, p-value, and confidence interval are not included in the report.

CaseControlBias: Matching was performed on the basis of ethnicity. While it is possible that age, gender, and other demographics were not as well-matched between cases and controls, the early onset of the disease makes these unlikely sources of bias. Because the process of matching is not described in detail, it is difficult to evaluate other sources of potential bias such as differences in local origin between cases and controls that might lead to false assumptions that certain individuals are unrelated.

CaseControlComments: N/A