Leprel1-related Giant Retinal Tear Detachments Mimic the Phenotype of Ocular Stickler Syndrome
Magliyah, Moustafa S. ; Almarek, Faisal ; Nowilaty, Sawsan R. ; Al-Abdi, Lama ; Alkuraya, Fowzan S. ; Alowain, Mohammed ; Schatz, Patrik LU
; Alfaadhel, Talal
; Khan, Arif O.
and Alsulaiman, Sulaiman M.
(2023)
In Retina
43(3).
p.498-505
- Abstract
Purpose:To describe the features of retinal detachments and high myopia in patients with novel pathogenic variants in LEPREL1 and report a possible association with nephropathy.Methods:Retrospective study of 10 children with biallelic LEPREL1 pathogenic variants. Data included ophthalmic features, surgical interventions, and genetic and laboratory findings.Results:10 patients (8 females) from three families with homozygous (2) or compound heterozygous (1) variants in LEPREL1 were included. At presentation, mean age was 9.9 ± 2.6 years. Mean axial length was 28.9 ± 1.9 mm and mean refraction was -13.9 ± 2.8 diopters. Bilateral posterior subcapsular cataracts were present in eight patients (80%), with lens subluxation in five eyes of... (More)
Purpose:To describe the features of retinal detachments and high myopia in patients with novel pathogenic variants in LEPREL1 and report a possible association with nephropathy.Methods:Retrospective study of 10 children with biallelic LEPREL1 pathogenic variants. Data included ophthalmic features, surgical interventions, and genetic and laboratory findings.Results:10 patients (8 females) from three families with homozygous (2) or compound heterozygous (1) variants in LEPREL1 were included. At presentation, mean age was 9.9 ± 2.6 years. Mean axial length was 28.9 ± 1.9 mm and mean refraction was -13.9 ± 2.8 diopters. Bilateral posterior subcapsular cataracts were present in eight patients (80%), with lens subluxation in five eyes of three patients (30%). Rhegmatogenous retinal detachments (RRD), associated with giant retinal tears (GRT), developed in seven eyes of five patients (50%) at a mean age of 14.14 ± 5.9 years. Six were successfully reattached with mean Snellen best-corrected visual acuity improving from 20/120 preoperatively to 20/60 at last follow-up. Urinalysis in nine patients revealed microhematuria and/or mild proteinuria in six patients (67%).Conclusion:LEPREL1-related high myopia confers a high risk of early-onset GRT-related RRD. The ocular phenotype may be confused with that of ocular Stickler syndrome if genetic testing is not performed. Further investigations into a potential association with renal dysfunction are warranted.
(Less)
- author
- Magliyah, Moustafa S.
; Almarek, Faisal
; Nowilaty, Sawsan R.
; Al-Abdi, Lama
; Alkuraya, Fowzan S.
; Alowain, Mohammed
; Schatz, Patrik
LU
; Alfaadhel, Talal
; Khan, Arif O.
and Alsulaiman, Sulaiman M.
- organization
- publishing date
- 2023-03-01
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- giant retinal tear, hematuria, lens subluxation, LEPREL1, myopia, nephropathy, proteinuria, rhegmatogenous retinal detachment, stickler syndrome
- in
- Retina
- volume
- 43
- issue
- 3
- pages
- 8 pages
- publisher
- Lippincott Williams & Wilkins
- external identifiers
-
- pmid:36729830
- scopus:85148679351
- ISSN
- 0275-004X
- DOI
- 10.1097/IAE.0000000000003691
- language
- English
- LU publication?
- yes
- id
- e0e40e9d-8090-4f6f-9420-bd304d54b45c
- date added to LUP
- 2023-03-15 12:30:48
- date last changed
- 2024-05-02 03:34:21
@article{e0e40e9d-8090-4f6f-9420-bd304d54b45c,
abstract = {{<p>Purpose:To describe the features of retinal detachments and high myopia in patients with novel pathogenic variants in LEPREL1 and report a possible association with nephropathy.Methods:Retrospective study of 10 children with biallelic LEPREL1 pathogenic variants. Data included ophthalmic features, surgical interventions, and genetic and laboratory findings.Results:10 patients (8 females) from three families with homozygous (2) or compound heterozygous (1) variants in LEPREL1 were included. At presentation, mean age was 9.9 ± 2.6 years. Mean axial length was 28.9 ± 1.9 mm and mean refraction was -13.9 ± 2.8 diopters. Bilateral posterior subcapsular cataracts were present in eight patients (80%), with lens subluxation in five eyes of three patients (30%). Rhegmatogenous retinal detachments (RRD), associated with giant retinal tears (GRT), developed in seven eyes of five patients (50%) at a mean age of 14.14 ± 5.9 years. Six were successfully reattached with mean Snellen best-corrected visual acuity improving from 20/120 preoperatively to 20/60 at last follow-up. Urinalysis in nine patients revealed microhematuria and/or mild proteinuria in six patients (67%).Conclusion:LEPREL1-related high myopia confers a high risk of early-onset GRT-related RRD. The ocular phenotype may be confused with that of ocular Stickler syndrome if genetic testing is not performed. Further investigations into a potential association with renal dysfunction are warranted.</p>}},
author = {{Magliyah, Moustafa S. and Almarek, Faisal and Nowilaty, Sawsan R. and Al-Abdi, Lama and Alkuraya, Fowzan S. and Alowain, Mohammed and Schatz, Patrik and Alfaadhel, Talal and Khan, Arif O. and Alsulaiman, Sulaiman M.}},
issn = {{0275-004X}},
keywords = {{giant retinal tear; hematuria; lens subluxation; LEPREL1; myopia; nephropathy; proteinuria; rhegmatogenous retinal detachment; stickler syndrome}},
language = {{eng}},
month = {{03}},
number = {{3}},
pages = {{498--505}},
publisher = {{Lippincott Williams & Wilkins}},
series = {{Retina}},
title = {{Leprel1-related Giant Retinal Tear Detachments Mimic the Phenotype of Ocular Stickler Syndrome}},
url = {{http://dx.doi.org/10.1097/IAE.0000000000003691}},
doi = {{10.1097/IAE.0000000000003691}},
volume = {{43}},
year = {{2023}},
}