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Leprel1-related Gia...
Leprel1-related Giant Retinal Tear Detachments Mimic the Phenotype of Ocular Stickler Syndrome
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- Magliyah, Moustafa S. (author)
- King Khaled Eye Specialist Hospital
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- Almarek, Faisal (author)
- Imam Muhammad ibn Saud Islamic University
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- Nowilaty, Sawsan R. (author)
- King Khaled Eye Specialist Hospital
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- Al-Abdi, Lama (author)
- King Faisal Specialist Hospital and Research Centre
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- Alkuraya, Fowzan S. (author)
- King Faisal Specialist Hospital and Research Centre
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- Alowain, Mohammed (author)
- King Faisal Specialist Hospital and Research Centre
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- Schatz, Patrik (author)
- Lund University,Lunds universitet,Oftalmologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Ophthalmology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,King Khaled Eye Specialist Hospital,Skåne University Hospital
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- Alfaadhel, Talal (author)
- King Saud University
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- Khan, Arif O. (author)
- Cleveland Clinic Abu Dhabi
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- Alsulaiman, Sulaiman M. (author)
- King Khaled Eye Specialist Hospital
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(creator_code:org_t)
- 2023
- 2023
- English 8 s.
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In: Retina. - 0275-004X. ; 43:3, s. 498-505
- Related links:
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oftalmologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Ophthalmology (hsv//eng)
Keyword
- giant retinal tear
- hematuria
- lens subluxation
- LEPREL1
- myopia
- nephropathy
- proteinuria
- rhegmatogenous retinal detachment
- stickler syndrome
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Magliyah, Mousta ...
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Almarek, Faisal
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Nowilaty, Sawsan ...
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Al-Abdi, Lama
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Alkuraya, Fowzan ...
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Alowain, Mohamme ...
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show more...
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Schatz, Patrik
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Alfaadhel, Talal
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Khan, Arif O.
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Alsulaiman, Sula ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Ophthalmology
- Articles in the publication
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Retina
- By the university
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Lund University