Challenges of Phenotype-Genotype Correlations in Rare Diseases-Reply

Vasily M Smirnov^{1

2

3}, Christina Zeitz¹, Isabelle Audo^{1

4

5}

Affiliations

¹ Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
² Université de Lille, Faculté de Médecine, Lille, France.
³ Exploration de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France.
⁴ Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 1423, Paris, France.
⁵ Institute of Ophthalmology, University College London, London, United Kingdom.

Comment

Vasily M Smirnov et al. JAMA Ophthalmol. 2021.

. 2021 Dec 1;139(12):1323-1324.

doi: 10.1001/jamaophthalmol.2021.4375.

Vasily M Smirnov^{1

2

3}, Christina Zeitz¹, Isabelle Audo^{1

4

5}

¹ Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
² Université de Lille, Faculté de Médecine, Lille, France.
³ Exploration de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France.
⁴ Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 1423, Paris, France.
⁵ Institute of Ophthalmology, University College London, London, United Kingdom.

Erratum in

Error in Classification of Variants.
[No authors listed] [No authors listed] JAMA Ophthalmol. 2021 Dec 1;139(12):1324. doi: 10.1001/jamaophthalmol.2021.4737. JAMA Ophthalmol. 2021. PMID: 34709357 Free PMC article. No abstract available.

No abstract available

Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.
Smirnov VM, Nassisi M, Solis Hernandez C, Méjécase C, El Shamieh S, Condroyer C, Antonio A, Meunier I, Andrieu C, Defoort-Dhellemmes S, Mohand-Said S, Sahel JA, Audo I, Zeitz C. Smirnov VM, et al. JAMA Ophthalmol. 2021 Mar 1;139(3):278-291. doi: 10.1001/jamaophthalmol.2020.6089. JAMA Ophthalmol. 2021. PMID: 33507216 Free PMC article.
Challenges of Phenotype-Genotype Correlations in Rare Diseases.
Masten MC, Augustine EF, Mink JW. Masten MC, et al. JAMA Ophthalmol. 2021 Dec 1;139(12):1323. doi: 10.1001/jamaophthalmol.2021.4372. JAMA Ophthalmol. 2021. PMID: 34709366 No abstract available.