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. 2024 Mar;241(3):272-274.
doi: 10.1055/a-2280-1536. Epub 2024 Mar 20.

A Mild Form of RPE65-Associated Retinopathy

Sandrine H Künzel  1 , Philipp Rating  2 , Marlene Saßmannshausen  1 , Frank G Holz  1 , Philipp Herrmann  1
Affiliations

A Mild Form of RPE65-Associated Retinopathy

Sandrine H Künzel et al. Klin Monbl Augenheilkd. 2024 Mar.
No abstract available

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Conflict of interest statement

S. H. Künzel: Novartis Pharma, Basel, Switzerland (C), Chiesi GmbH, Hamburg, Germany (C), Apellis, Waltham, US (C). P. Rating: Bayer, Janssen-Cilag. M. Saßmannshausen: Heidelberg Engineering (F); Optos (F), Zeiss (F), CenterVue (F), FemHabil Program, Faculty of Medicine, University of Bonn, Germany. F. G. Holz: Acucela (C, F), Allergan (F), Apellis (C, F), Bayer (C, F), Boehringer-Ingelheim (C), Bioeq/Formycon (F, C), CenterVue (F), Ellex (F), Roche/Genentech (C, F), Geuder (C, F), Graybug (C), Gyroscope (C), Heidelberg Engineering (C, F), IvericBio (C, F), Kanghong (C,F), LinBioscience (C), NightStarX (F), Novartis (C, F), Optos (F), Oxurion (C), Pixium Vision (C, F), Oxurion (C), Stealth BioTherapeutics (C), Zeiss (F, C). P. Herrmann: Novartis (C,F), Janssen-Cilag (C, F). Funding: Novartis Germany (LTW888A_FVHMO001).

Figures

Fig. 1
Fig. 1
The patientʼs pedigree analysis. The presence of the biallelic mutations c.11 + 5G>A and c.433 G>A (p.Ala144 Thr) in the RPE65 gene in the patient are marked.
Fig. 2
Fig. 2
The phenotype in multimodal imaging. The clinical phenotype is shown in multimodal imaging. The blue-light fundus autofluorescence (BAF) imaging reveals a generally slight decrease in autofluorescence across the retina, most notably observed in the 55° images. Overall, there is particular emphasis on an irregular, partly granular and spotty pattern of hypoautofluorescence in the macular area. The near-infrared reflectance (IR) images display a dull macular reflection with irregularities. In the optical coherence tomography (OCT), the outer retinal layers, notably the retinal pigment epithelium and photoreceptor layers, are characterized by irregular thinning and a mix of hyporeflective and granular changes. The widefield color fundus photograph depicts circular patchy chorioretinal atrophies in the peripheral retina, marked by hyperpigmentation
Fig. 3
Fig. 3
Spatially resolved visual function. Goldmann visual field testing illustrates the patientʼs visual field integrity in response to different stimulus sizes. Red contours represent the boundaries detected using the III 4e stimulus, which typically reveals finer visual field defects. Here, the defects correspond to the patchy chorioretinal atrophy observed in the peripheral retina imaging. Blue contours correspond to the V 4e stimulus, indicative of the broader visual field typically seen in healthy individuals of similar age, showing no central scotomas and peripheral boundaries comparable to healthy controls. The microperimetry shows the severely reduced macular sensitivity.
See this image and copyright information in PMC

References

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