Multimodal and longitudinal evaluation of novel phenotype-genotype correlation of CLN3 isolated retinal degeneration in an hispanic female with heterozygous mutations c.944dup and c.1305C>G

ABSTRACT

Background

Inherited retinal disorders (IRDs) are a complex group of heritable diseases which are characterized by rod, cone, retinal pigment epithelium, or optic nerve dysfunction. Recently, mutations in CLN3 have also been associated with isolated IRDs. Herein, a case with heterozygous CLN3 variations that had not been previously linked to a CLN3-isolated retinal degeneration (CLN3IRD) phenotype in a Hispanic female and its multimodal imaging findings across a 10-year follow-up are presented.

Material and methods

An observational, prospective, case report on a hispanic female with CLN3IRD is presented. Patients underwent genetic testing and color fundus photography (CFC) and autofluorescence (FAF), fluorescein angiography (FA), Spectral domain optical coherence tomography (OCT) of the macular area, electroretinogram (ERG) and 30–2 visual field examination through automated perimetry.

Results

A female, aged 24, affected by CLN3IRD phenotype from c.944dup and c.1305C>G compound heterozygous variants, presented with bilateral hypopigmentary changes in the macular area of OU with that corresponded to hyporautofluorescent deposits in the macular area on FAF. An atrophic maculopathy was evident on structural OCT, and FA disclosed a symmetrical macular hyperflourescence with staining in the early and late stages in OU. Humphrey visual field testing showed a marked reduction of the central visual field in OU. Electrophysiological testing revealed an ERG with markedly decreased a and b waves in OU. In ten years follow up developed of bone spiculae in the midperipheral retina.

Conclusions

We reported a patient with a novel CLN3IRD severe phenotype associated with the variants c.944dup and c.1305C>G, which had previously only been associated with JCNL.

KEYWORDS:

• CLN3-associated retinal degeneration
• juvenile neuronal ceroid lipofuscinosis
• macular degeneration
• inherited retinal disorders

Disclosure statement

No potential conflict of interest was reported by the author(s).

Supplementary data

Supplemental data for this article can be accessed online at https://doi.org/10.1080/13816810.2023.2245460.

Additional information

Funding

The author(s) reported there is no funding associated with the work featured in this article.