Ocular manifestations in Koolen-de Vries syndrome : an international study
Copyright © 2023 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved..
OBJECTIVES: Koolen-de Vries Syndrome (KdVS) is a rare multisystem neurodevelopmental disorder. Ocular manifestations, including strabismus, ptosis, and hyperopia, have been reported in KdVS patients, but detailed clinical data are limited. This study aims to investigate the already known ocular malformations and their frequency while uncovering novel ocular associations.
METHODS: This was an international cross-sectional study. An anonymous questionnaire was sent to 237 KdVS patients registered in the GenIDA database. The questionnaire inquired about demographic data, ocular symptoms, findings reported by ophthalmologists, and ophthalmologic surgical interventions. The main outcome measures included ocular findings and surgical interventions.
RESULTS: Sixty-seven respondents worldwide completed the questionnaire, most (n = 53; 79%) under 18 years of age. Ophthalmologic abnormalities, noted in 79% of patients, included refractive errors (n = 35; 52.2%), strabismus (n = 23; 34.3%), amblyopia (n = 13; 19.5%), and eyelid ptosis (n = 9; 13.4%). Lacrimal disorders were present (n = 6; 9.0%), as were retinal findings (n = 7; 10.4%), including retinal hyperpigmentation or hypopigmentation (n = 4; 7.5%), Sjögren's pigment epithelial reticular dystrophy (n = 1; 1.5%), and macular chorioretinal coloboma (n = 1; 1.5%). Other manifestations included ocular surface disorders (n = 5; 7.5%), cataracts (n = 3; 4.5%), Brown syndrome (n = 1; 1.5%), glaucoma (n = 1; 1.5%), cerebral visual impairment (n = 1; 1.5%), and optic atrophy (n = 1; 1.5%). Fourteen patients (20.8%) had undergone surgical interventions.
CONCLUSIONS: KdVS is associated with various ophthalmic findings, such as amblyopia, refractive errors, strabismus, and eyelid ptosis. We describe, for the first time, a high rate of nasolacrimal disorders and retinal abnormalities consisting mainly of pigmentary findings, including a rare case of Sjögren's pigment epithelial reticular dystrophy. A comprehensive ophthalmic evaluation is therefore recommended for all KdVS patients at initial diagnosis or at 4-6 months of age for diagnosed newborns.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2023 |
|---|---|
| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - year:2023 |
|---|---|
| Enthalten in: |
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie - (2023) vom: 22. Dez. |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Shalev, Dafna [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
|---|
| Anmerkungen: |
Date Revised 06.01.2024 published: Print-Electronic Citation Status Publisher |
|---|
| doi: |
10.1016/j.jcjo.2023.11.021 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM366362917 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM366362917 | ||
| 003 | DE-627 | ||
| 005 | 20240108142804.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231227s2023 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.jcjo.2023.11.021 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1251.xml |
| 035 | |a (DE-627)NLM366362917 | ||
| 035 | |a (NLM)38145626 | ||
| 035 | |a (PII)S0008-4182(23)00379-4 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Shalev, Dafna |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Ocular manifestations in Koolen-de Vries syndrome |b an international study |
| 264 | 1 | |c 2023 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Revised 06.01.2024 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status Publisher | ||
| 520 | |a Copyright © 2023 Canadian Ophthalmological Society. Published by Elsevier Inc. All rights reserved. | ||
| 520 | |a OBJECTIVES: Koolen-de Vries Syndrome (KdVS) is a rare multisystem neurodevelopmental disorder. Ocular manifestations, including strabismus, ptosis, and hyperopia, have been reported in KdVS patients, but detailed clinical data are limited. This study aims to investigate the already known ocular malformations and their frequency while uncovering novel ocular associations | ||
| 520 | |a METHODS: This was an international cross-sectional study. An anonymous questionnaire was sent to 237 KdVS patients registered in the GenIDA database. The questionnaire inquired about demographic data, ocular symptoms, findings reported by ophthalmologists, and ophthalmologic surgical interventions. The main outcome measures included ocular findings and surgical interventions | ||
| 520 | |a RESULTS: Sixty-seven respondents worldwide completed the questionnaire, most (n = 53; 79%) under 18 years of age. Ophthalmologic abnormalities, noted in 79% of patients, included refractive errors (n = 35; 52.2%), strabismus (n = 23; 34.3%), amblyopia (n = 13; 19.5%), and eyelid ptosis (n = 9; 13.4%). Lacrimal disorders were present (n = 6; 9.0%), as were retinal findings (n = 7; 10.4%), including retinal hyperpigmentation or hypopigmentation (n = 4; 7.5%), Sjögren's pigment epithelial reticular dystrophy (n = 1; 1.5%), and macular chorioretinal coloboma (n = 1; 1.5%). Other manifestations included ocular surface disorders (n = 5; 7.5%), cataracts (n = 3; 4.5%), Brown syndrome (n = 1; 1.5%), glaucoma (n = 1; 1.5%), cerebral visual impairment (n = 1; 1.5%), and optic atrophy (n = 1; 1.5%). Fourteen patients (20.8%) had undergone surgical interventions | ||
| 520 | |a CONCLUSIONS: KdVS is associated with various ophthalmic findings, such as amblyopia, refractive errors, strabismus, and eyelid ptosis. We describe, for the first time, a high rate of nasolacrimal disorders and retinal abnormalities consisting mainly of pigmentary findings, including a rare case of Sjögren's pigment epithelial reticular dystrophy. A comprehensive ophthalmic evaluation is therefore recommended for all KdVS patients at initial diagnosis or at 4-6 months of age for diagnosed newborns | ||
| 650 | 4 | |a Journal Article | |
| 700 | 1 | |a Koolen, David A |e verfasserin |4 aut | |
| 700 | 1 | |a de Vries, Bert B A |e verfasserin |4 aut | |
| 700 | 1 | |a Blum Meirovitch, Sharon |e verfasserin |4 aut | |
| 700 | 1 | |a Mandel, Jean-Louis |e verfasserin |4 aut | |
| 700 | 1 | |a Burger, Pauline |e verfasserin |4 aut | |
| 700 | 1 | |a Rosenfeld, Alik |e verfasserin |4 aut | |
| 700 | 1 | |a Ben Simon, Guy J |e verfasserin |4 aut | |
| 700 | 1 | |a Landau Prat, Daphna |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Canadian journal of ophthalmology. Journal canadien d'ophtalmologie |d 1966 |g (2023) vom: 22. Dez. |w (DE-627)NLM000001597 |x 1715-3360 |7 nnns |
| 773 | 1 | 8 | |g year:2023 |g day:22 |g month:12 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1016/j.jcjo.2023.11.021 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |j 2023 |b 22 |c 12 | ||