Dataset Information

Clinical and Histopathologic Correlates of Asymmetric Retinitis Pigmentosa.

ABSTRACT:

Importance

Asymmetric retinitis pigmentosa (RP) is a rare presentation of a normally symmetric condition. Histopathologic evidence should be examined to see if this asymmetry extends to the tissue and cellular levels.

Objective

To determine whether additional information can be obtained about asymmetric RP from studying clinical imaging and pathology correlates, including pathology samples from autopsied eyes.

Design, setting, and participants

In this case report, clinical and postmortem histopathological characteristics were compared in 2 eyes of a patient in her 50s with asymmetric RP. Individuals with rare mendelian diseases, such as RP, were studied using data from the curated National Eye Institute Eye Pathology collection.

Main outcome and measures

Results of clinical evaluation, multimodal retinal imaging, histopathology, and molecular genetic testing in a case of nonsyndromic asymmetric RP using resources from the ocular pathology collection.

Results

Eyes from a deceased patient in her 50s with nonsyndromic asymmetric RP found within the ocular pathology collection were studied. The patient was diagnosed with RP as an adolescent and presented in her 50s to the eye clinic with advanced RP, with the left eye affected much more severely than the right. The patient's phenotype was studied using in vivo imaging and postmortem histopathology to identify interocular differences in tissue degeneration. Extraction of blood-derived DNA and formalin-fixed paraffin-embedded DNA from autopsied eyes analyzed using next-generation sequencing did not yield a definitive molecular diagnosis nor significant tissue differences.

Conclusions and relevance

This study demonstrates newly reported histopathological and molecular correlates in asymmetric RP. This report also highlights the relevance of studying previously seen patients and reevaluating their conditions using resources within the ocular pathology collection to gain further insight on their disease.

SUBMITTER: Lal T

PROVIDER: S-EPMC8343521 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature

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Publications

Clinical and Histopathologic Correlates of Asymmetric Retinitis Pigmentosa.

Lal Trisha T Yu Zu-Xi ZX Guan Bin B Bender Chelsea C Chan Chi-Chao CC Cukras Catherine A CA Hufnagel Robert B RB

JAMA ophthalmology 20210901 9

<h4>Importance</h4>Asymmetric retinitis pigmentosa (RP) is a rare presentation of a normally symmetric condition. Histopathologic evidence should be examined to see if this asymmetry extends to the tissue and cellular levels.<h4>Objective</h4>To determine whether additional information can be obtained about asymmetric RP from studying clinical imaging and pathology correlates, including pathology samples from autopsied eyes.<h4>Design, setting, and participants</h4>In this case report, clinical ...[more]

PMID: 34351381

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Project description:ImportanceSNRNP200 is a recently identified genetic cause of autosomal dominant retinitis pigmentosa (RP). However, the associated retinal phenotype is not well characterized.ObjectiveTo describe the retinal phenotype in patients with RP secondary to variants in SNRNP200.Design, setting, and participantsThis retrospective, case-series study was performed at 2 tertiary referral centers for inherited retinal diseases. Participants included 9 consecutive patients from 8 families with RP attributed to variants in SNRNP200. Data were collected from August 2017 to March 2018 and analyzed from May to July 2018.Main outcomes and measuresResults of clinical evaluation, multimodal retinal imaging, and molecular genetic testing using targeted next-generation sequencing.ResultsOf the 9 patients included in the analysis (4 female and 5 male; mean [SD] age at presentation, 19 [15] years), each presented with nyctalopia, typically in the first 2 decades of life, although 2 patients experienced symptom onset in middle age. None had any consistent systemic features suggestive of syndromic RP. Retinal imaging studies and electroretinography findings were typical of a rod-predominant dystrophy with later involvement of cone photoreceptors. Phenotypic heterogeneity was typified by 4 unrelated patients with the common c.2041C>T SNRNP200 variant who demonstrated a variable age of disease onset (middle teenage years to the fourth decade of life). Disease progression was slow, with all but 1 patient maintaining visual acuity of better than 20/40 in the better-seeing eye in the fifth and sixth decades of life.Conclusions and relevanceThese data suggest that variants in SNRNP200 result in nonsyndromic RP with a typical phenotype of a rod-predominant dystrophy. Significant phenotypic heterogeneity and nonpenetrance were noted within some affected families. Symptom onset was typically within the first 2 decades of life, with slow progression and well-preserved visual acuities into the fifth and sixth decades.

Dataset Information

Clinical and Histopathologic Correlates of Asymmetric Retinitis Pigmentosa.

Importance

Objective

Design, setting, and participants

Main outcome and measures

Results

Conclusions and relevance

Publications

Clinical and Histopathologic Correlates of Asymmetric Retinitis Pigmentosa.

Similar Datasets

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