Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa

Magliyah, Moustafa; Alshamrani, Abdulaziz A; Schatz, Patrik; Taşkintuna, İbrahim; Alzahrani, Yahya; Nowilaty, Sawsan R.

doi:10.1080/13816810.2020.1867754

Cited by 12 publications

(10 citation statements)

References 24 publications

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“…Our data are based on simple cross-sectional analyses, making it difficult to tell whether the vascular impairment is primary feature or, instead, a secondary phenomenon due to degenerative changes in the photoreceptor-RPE and inner retinal layers. However, it should be noted that CRB1 variants been described in association with Coats-like exudative vasculopathy both in Leber congenital amaurosis and retinitis pigmentosa [23][24][25].…”

Section: Discussionmentioning

confidence: 99%

Optical Coherence Tomography Angiography in CRB1-Associated Retinal Dystrophies

Rajabian

Arrigo

Bianco

et al. 2023

JCM

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Aim of the study: To report optical coherence tomography angiography (OCTA) findings in patients affected by CRB1-associated retinal dystrophies. Method: Patients affected by a genetically confirmed CRB1-associated retinal dystrophy were prospectively enrolled in an observational study, along with age- and sex-matched healthy volunteers as control subjects. All study and control subjects received a complete ophthalmic examination and multimodal retinal imaging, including OCTA. Result: A total of 12 eyes from 6 patients were included in the study. The mean BCVA of patients was 0.42 ± 0.25 logMAR. Two patients showed large central atrophy, with corresponding definite hypo-autofluorescence on fundus autofluorescence (FAF). Another four patients disclosed different degrees of RPE mottling, with uneven FAF. On OCTA, the macular deep capillary plexus and choriocapillaris had a lower vessel density in eyes affected by CRB1-associated retinopathy when compared to healthy controls. On the other hand, vessel density at the peripapillary radial capillary plexus, superficial capillary plexus, and deep capillary plexus was significantly altered with respect to control eyes. Statistical analyses disclosed a negative correlation between the deep capillary plexus and both LogMAR best corrected visual acuity and central retinal thickness. Conclusion: Our study reveals that CRB1-associated retinal dystrophies are characterized by vascular alterations both in the macular and peripapillary region, as assessed by OCTA.

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Section: Discussionmentioning

confidence: 99%

Optical Coherence Tomography Angiography in CRB1-Associated Retinal Dystrophies

Rajabian

Arrigo

Bianco

et al. 2023

JCM

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“…This suggests that a primary retinal degeneration may have been present in this family and may have also been at the origin of the Coats-like vasculopathy in the proband. Coats-like features are known to complicate retinal degenerations 8 or long-standing RD.…”

Section: Discussionmentioning

confidence: 99%

Familial Exudative Vitreotinopathy–like Features in Stickler Type Iv Associated With Novel Variants in Col9a1

Alsubaie

Magliyah

AlRaddadi

et al. 2023

RETINAL Cases &Amp; Brief Reports

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Background/Purpose: To report a case of Stickler Type IV with familial exudative vitreoretinopathy phenotype.Methods: Retrospective case report.Results: A 24-year-old woman presented with right eye exotropia and decreased vision. She had no facial or typical retinal features of Stickler syndrome but complained of rightsided hearing loss and right-sided neck pain. Examination of the right eye showed a chronic combined exudative and traction retinal detachment with temporal retinal dragging associated with far temporal retinal exudations and fibrovascular proliferations. The left eye had an attached retina with large areas of peripheral temporal retinal nonperfusion on fluorescein angiography, sharply demarcated by end circulation vascular pruning and mild peripheral vascular leakage, consistent with familial exudative vitreoretinopathy phenotype. Genetic analysis identified two heterozygous c.1052C.A and c.1349A.G variants in COL9A1, but did not disclose any mutation in genes classically associated with familial exudative vitreoretinopathy.Conclusion: Familial exudative vitreoretinopathy-like retinal vascular features can be the presenting sign in patients with Stickler syndrome Type IV.

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“…Laser photocoagulation has been reported as the most effective alternative by some authors. 12 , 26 , 27 , 28 , 29 However, no randomized prospective studies evaluating treatment for Coats-like exudative vitreoretinopathy has been performed. Intravitreal anti-vascular endothelial growth factors (anti-VEGF) agents have been recently utilized as adjuvant treatment to modulate the acute exudative response seen after primary therapy.…”

Section: Discussionmentioning

confidence: 99%