Clinical and morphological manifestations of aniridia-associated keratopathy on anterior segment optical coherence tomography and in vivo confocal microscopy

Voskresenskaya, A. A.; Pozdeyeva, N.A.; Vasilyeva, T.A.; Batkov, Yevgeniy; Шипунов, А А; Gagloev, B.V.; Зинченко, Р. А.

doi:10.1016/j.jtos.2017.07.001

Cited by 16 publications

(12 citation statements)

References 35 publications

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“…A recent study from Lagali et al described an association between PAX6 mutation types and severity of ARK, with whole-gene deletions followed by PTC and CTE variants associated with the most severe grades of ARK. Milder disease forms were in turn associated with missense changes and the mildest forms of ARK in patients with non- PAX6 variants ( 6 , 58 ). Accordingly, we found a significantly higher prevalence of ARK in CTE and nonsense mutation subgroups and a significantly lower prevalence with missense mutations as well as the absence of ARK in patient 3-I, with a 3′ UTR gene deletion extending to involve ELP4 and DCDC1 .…”

Section: Discussionmentioning

confidence: 99%

“…In four families there was no intrafamilial variability relating to iris hypoplasia (18, 25, 45, and 59). Seven families (19,27,31,34,55,58 and 60) demonstrated mild intrafamilial variability (no iris abnormality to mild iris hypoplasia, or severe grades of aniridia only), and one family (42) showed more significant differences from mild grade 1 to severe grade 6 iris hypoplasia.…”

Section: Spectrum Of Iris Hypoplasia Varies With Pax6 Specific Mutation Sub-groupsmentioning

confidence: 99%

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Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia

Kit¹,

Cunha²,

Hagag³

et al. 2021

JCI Insight

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Aniridia is most commonly caused by haploinsufficiency of the PAX6 gene, characterised by variable iris and foveal hypoplasia, nystagmus, cataracts, glaucoma and aniridia related keratopathy (ARK). Genotype-phenotype correlations have previously been described, however detailed longitudinal studies of aniridia are less commonly reported. We identified eighty-six patients from sixty-two unrelated families with molecularly confirmed heterozygous PAX6 variants from a United Kingdom (UK)-based single-centre ocular genetics service. They were categorised into mutation groups and retrospective review of baseline to most recent clinical characteristics (ocular and systemic) were recorded. One hundred and seventy-two eyes were evaluated, with a mean follow up period of 16.3 ± 12.7 years. Nystagmus was recorded in 87.2%, and foveal hypoplasia in 75%. Cataracts were diagnosed in 70.3%, glaucoma in 20.6% and ARK in 68.6% of eyes. Prevalence, age of diagnosis and surgical intervention varied amongst mutation groups. Overall, the missense mutation sub-group had the mildest phenotype, and surgically naïve eyes maintained better visual acuity. Systemic evaluation identified type 2 diabetes in 12.8%, which is twice the UK prevalence. This is the largest longitudinal study of aniridia in the United Kingdom, providing insights into prognostic indicators for patients and guiding clinical management of both ocular and systemic features.

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Section: Discussionmentioning

confidence: 99%

Section: Spectrum Of Iris Hypoplasia Varies With Pax6 Specific Mutation Sub-groupsmentioning

confidence: 99%

Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia

Kit¹,

Cunha²,

Hagag³

et al. 2021

JCI Insight

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“…cross-sections parallel and perpendicular to the limbus and en face sections). 117,118 Compared with normal eyes, eyes with LSCD feature an absence of the POV and limbal crypts (limbal niche characteristics), and have greater variability in their central corneal epithelial thickness and, in general, a significant reduction in the thickness of limbal epithelium, as measured by AS-OCT (Figure 4). 115,118 AS-OCT is also helpful in the diagnosis of LSCD with complex concomitant ocular surface diseases, such as ocular surface squamous neoplasia.…”

Section: Anterior Segment Optical Coherence Tomographymentioning

confidence: 99%

Global Consensus on Definition, Classification, Diagnosis, and Staging of Limbal Stem Cell Deficiency

Deng

Borderie

Chan

et al. 2018

Cornea

220

212

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Purpose: Despite extensive knowledge gained over the last three decades regarding limbal stem cell deficiency (LSCD), the disease is not clearly defined, and there is lack of agreement on the diagnostic criteria, staging and classification system among treating physicians and research scientists working on this field. There is therefore an unmet need to obtain global consensus on the definition, classification, diagnosis and staging of LSCD. Methods: A Limbal Stem Cell Working Group was first established by the Cornea Society in 2012. The Working Group was divided into subcommittees. Four face-to-face meetings, frequent email discussions and teleconferences were conducted since then to obtain agreement on a strategic plan and methodology from all the participants after a comprehensive literature search,

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“…Therefore, recent studies have investigated whether anteriorsegment optical coherence tomography might be another feasible imaging technique to diagnose LSCD. 4, 68,79,94,155 Clinical findings alone are insufficient to make the diagnosis and stage the severity of the disease, particularly in complicated cases, because the clinical signs used to diagnose LSCD are not pathognomonic. 67 Residual normal limbal epithelial cells have been detected in eyes with clinical signs of total LSCD.…”

Section: Discussionmentioning

confidence: 99%

Diagnostic criteria for limbal stem cell deficiency before surgical intervention—A systematic literature review and analysis

Chauhan

Deng

2020

Survey of Ophthalmology

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Keywords: limbal stem cell deficiency limbal stem cells diagnosis impression cytology in vivo laser scanning confocal microscopy imaging a b s t r a c t An accurate diagnosis of limbal stem cell deficiency (LSCD) is the premise of an appropriate treatment; however, there is no consensus about the diagnostic criteria for LSCD. We performed a systematic literature search of the peer-reviewed articles on PubMed, Medline, and Ovid to investigate how LSCD was diagnosed before surgical intervention. The methods used to diagnose LSCD included clinical presentation, impression cytology, and in vivo confocal microscopy. Among 131 eligible studies (4054 eyes), 26 studies (459 eyes, 11.3%) did not mention the diagnostic criteria. In the remaining 105 studies, the diagnosis of LSCD was made on the basis of clinical examination alone in 2398 eyes (62.9%), and additional diagnostic tests were used in 1047 (25.8%) eyes. Impression cytology was used in 981 eyes (24.2%), in vivo confocal microscopy was used in 29 eyes (0.7%), and both impression cytology and in vivo confocal microscopy were used in 37 eyes (0.9%). Our findings suggest that only a small portion of patients underwent a diagnostic test to confirm the diagnosis of LSCD. Treating physicians should be aware of the limitations of clinical examination in diagnosing LSCD and perform a diagnostic test whenever possible before surgical intervention. ª ScienceDirect journal h om epa ge: www.elsev ie r.com/locate/surv ophthal 0039-6257/$ e see front matter ª 2019 Elsevier Inc. All rights reserved. https://doi.org/10.1016/j.survophthal.2019.06.008 s u r v e y o f o p h t h a l m o l o g y 6 5 ( 2 0 2 0 ) 3 2 e4 0 r e f e r e n c e s

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Clinical and morphological manifestations of aniridia-associated keratopathy on anterior segment optical coherence tomography and in vivo confocal microscopy

Cited by 16 publications

References 35 publications

Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia

Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia

Global Consensus on Definition, Classification, Diagnosis, and Staging of Limbal Stem Cell Deficiency

Diagnostic criteria for limbal stem cell deficiency before surgical intervention—A systematic literature review and analysis

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