How Big is the Hole? Measuring Intra- and Inter-Individual Agreement in Macular Hole Size Measurements.

PURPOSE: The size of a macular hole helps determine treatment planning and postoperative prognosis. The aim of this study was to examine intra- and inter-individual agreement in the measurement of full thickness macular hole (FTMH) size using optical coherence tomography (OCT) images. METHODS: Thirty OCT scans of FTMHs were reviewed by three vitreoretinal consultants and three vitreoretinal fellows. The FTMH size was recorded by each clinician independently and they repeated the measurements 3 weeks later. The repeatability of measurements was analysed using techniques of agreement measurement. RESULTS: The Coefficients of Repeatability (CR) for the intra-individual agreement were 46 µm, 73 µm and 60 µm for the consultant group and 44 µm, 60 µm and 57 µm for the fellow group. The Coefficients of Variation (CoV) of intra-individual repeatability were 3.8%, 5.9%, and 5.1% for the consultants and 3.5%, 5.2%, and 4.9% for the fellows. The CR for inter-individual agreement varied from 62 µm to 122 µm. There was no significant difference in repeatability of measurements between the consultant and the fellow groups (chi-squared, p = .95). CONCLUSIONS: Manual OCT FTMH diameter measurements show poor intra- and inter-individual repeatability. Future work should aim to develop an automated method for measuring macular holes.

Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.

OBJECTIVE: To identify the genetic causes underlying early-onset autosomal recessive retinitis pigmentosa (arRP) in the Spanish population and describe the associated phenotype. DESIGN: Case series. PARTICIPANTS: A total of 244 unrelated families affected by early-onset arRP. METHODS: Homozygosity mapping or exome sequencing analysis was performed in 3 families segregating arRP. A mutational screening was performed in 241 additional unrelated families for the p.Ser452Stop mutation. Haplotype analysis also was conducted. Individuals who were homozygotes, double heterozygotes, or carriers of mutations in RP1 underwent an ophthalmic evaluation to establish a genotype-phenotype correlation. MAIN OUTCOME MEASURES: DNA sequence variants, homozygous regions, haplotypes, best-corrected visual acuity, visual field assessments, electroretinogram responses, and optical coherence tomography images. RESULTS: Four novel mutations in RP1 were identified. The new mutation p.Ser542Stop was present in 11 of 244 (4.5%) of the studied families. All chromosomes harboring this mutation shared the same haplotype. All patients presented a common phenotype with an early age of onset and a prompt macular degeneration, whereas the heterozygote carriers did not show any signs of retinitis pigmentosa (RP). CONCLUSIONS: p.Ser542Stop is a single founder mutation and the most prevalent described mutation in the Spanish population. It causes early-onset RP with a rapid macular degeneration and is responsible for 4.5% of all cases. Our data suggest that the implication of RP1 in arRP may be underestimated. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.