The second Japanese family with Malattia Leventinese/Doyne honeycomb retinal dystrophy

Enomoto, Nobuko; Hayashi, Takaaki; Matsuura, Tomokazu; Takada, Koji; Takeuchi, Remi; Tomita, Goji; Mori, Ryusaburo

doi:10.1007/s10633-021-09859-3

Cited by 3 publications

(4 citation statements)

References 29 publications

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“…Black circles plot proportions from the UK (present study), from an early large study of five families, 14 and from many cases pooled from many subsequent reports. [15][16][17][18][19][20][21][22][23][24][25][26][27][28][29] The red diamond plots the proportion when all these cases are pooled.…”

Section: Discussionmentioning

confidence: 99%

“…An earlier paper 14 that pointed to the relevant chromosomal locus did show pedigrees for five families (92 affected individuals), from which numbers of affected males and females could be extracted (these were 40 and 52, respectively). Since then, several publications have reported additional cases [15][16][17][18][19][20][21][22][23][24][25][26][27][28][29] : these cases were reviewed (avoiding mutual overlap or overlap with the cohort in the current study); of 55 reported patients, 20 were males and 35 were females. The bottom of Figure 2 plots proportions with CIs.…”

Section: Pooling With Previously Published Best and Efemp1-associated...mentioning

confidence: 99%

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Sex Distributions in Non-ABCA4 Autosomal Macular Dystrophies

Mishra,

Vermeirsch,

Lin

et al. 2024

Invest. Ophthalmol. Vis. Sci.

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Purpose We sought to explore whether sex imbalances are discernible in several autosomally inherited macular dystrophies. Methods We searched the electronic patient records of our large inherited retinal disease cohort, quantifying numbers of males and females with the more common (non- ABCA4 ) inherited macular dystrophies (associated with BEST1 , EFEMP1 , PROM1 , PRPH2 , RP1L1 , and TIMP3 ). BEST1 cases were subdivided into typical autosomal dominant and recessive disease. For PRPH2 , only patients with variants at codons 172 or 142 were included. Recessive PROM1 and recessive RP1L1 cases were excluded because these variants give a more widespread or peripheral degeneration. The proportion of females was calculated for each condition; two-tailed binomial testing was performed. Where a significant imbalance was found, previously published cohorts were also explored. Results Of 325 patients included, numbers for BEST1 , EFEMP1 , PROM1 , PRPH2 , RP1L1 , and TIMP3 were 152, 35, 30, 50, 14, and 44, respectively. For autosomal dominant Best disease ( n = 115), there were fewer females (38%; 95% confidence interval [CI], 29–48%; P = 0.015). For EFEMP1 -associated disease ( n = 35), there were significantly more females (77%; 95% CI, 60%–90%; P = 0.0019). No significant imbalances were seen for the other genes. When pooling our cohort with previous large dominant Best disease cohorts, the proportion of females was 37% (95% CI, 31%–43%; P = 1.2 × 10 −5 ). Pooling previously published EFEMP1 -cases with ours yielded an overall female proportion of 62% (95% CI, 54%–69%; P = 0.0023). Conclusions This exploratory study found significant sex imbalances in two autosomal macular dystrophies, suggesting that sex could be a modifier. Our findings invite replication in further cohorts and the investigation of potential mechanisms.

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Section: Discussionmentioning

confidence: 99%

Section: Pooling With Previously Published Best and Efemp1-associated...mentioning

confidence: 99%

Sex Distributions in Non-ABCA4 Autosomal Macular Dystrophies

Mishra,

Vermeirsch,

Lin

et al. 2024

Invest. Ophthalmol. Vis. Sci.

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“…In the ffERG, symptomatic patients with DHRD can present with normal or reduced b-wave amplitudes in scotopic and photopic responses [ 85 , 86 , 87 , 88 ] and a reduced 30 Hz flicker response [ 82 , 86 ]. Oscillatory potentials (OPs) can also be reduced or absent in some patients with DHRD, while most patients have normal OPs.…”

Section: Application Of Electrophysiology In Macular Dystrophiesmentioning

confidence: 99%

“…In a PERG, it was reported that there was a mild to a moderate reduction in P50 and N95 components in DHRD patients [ 87 ]. In an mfERG, reduced amplitudes can be observed near the macula [ 85 , 86 ]. In an EOG, most DHRD patients have been reported to have responses within a normal range.…”

Section: Application Of Electrophysiology In Macular Dystrophiesmentioning

confidence: 99%

Electrophysiological Evaluation of Macular Dystrophies

Chiang

2023

JCM

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Macular dystrophies are a heterogeneous group of genetic disorders that often severely threatens the bilateral central vision of the affected patient. While advances in molecular genetics have been instrumental in the understanding and diagnosis of these disorders, there remains significant phenotypical variation among patients within any particular subset of macular dystrophies. Electrophysiological testing remains a vital tool not only to characterize vision loss for differential diagnosis but also to understand the pathophysiology of these disorders and to monitor the treatment effect, potentially leading to therapeutic advances. This review summarizes the application of electrophysiological testing in macular dystrophies, including Stargardt disease, bestrophinopathies, X-linked retinoschisis, Sorsby fundus dystrophy, Doyne honeycomb retina dystrophy, autosomal dominant drusen, occult macular dystrophy, North Carolina macular dystrophy, pattern dystrophy, and central areolar choroidal dystrophy.

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Macular neovascularization in inherited retinal diseases: A review

Heath Jeffery,

Chen

2024

Survey of Ophthalmology

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The second Japanese family with Malattia Leventinese/Doyne honeycomb retinal dystrophy

Cited by 3 publications

References 29 publications

Sex Distributions in Non-ABCA4 Autosomal Macular Dystrophies

Sex Distributions in Non-ABCA4 Autosomal Macular Dystrophies

Electrophysiological Evaluation of Macular Dystrophies

Macular neovascularization in inherited retinal diseases: A review

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