Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. [ncbi.nlm.nih.gov]

• Anemia

  […] disease, axonal, type 2W, 616625 HARS Usher syndrome type 3B, 614504 HCCS Linear skin defects with multiple congenital anomalies 1 309801 HGSNAT Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 HGSNAT Retinitis pigmentosa 73 616544 HK1 Hemolytic anemia [qgenomics.com]

  Senior-Loken Syndrome AR 96.29 18 of 19 SEMA4A Cone-Rod Dystrophy, Retinitis Pigmentosa AD,AR 99.94 15 of 15 SH2B1 Distal 16p11.2 Microdeletion Syndrome, Proximal 16p11.2 Microdeletion Syndrome – 99.98 25 of 25 SLC19A2 Thiamine-Responsive Megaloblastic Anemia [igenomix.es]

• Lymphedema

  […] cataracts, 613730 KCNJ13 Leber congenital amaurosis 16 614186 KCNJ13 Snowflake vitreoretinal degeneration, 193230 KCNV2 Retinal cone dystrophy 3B, 610356 KERA Cornea plana congenita, recessive, 217300 KIF11 Microcephaly with or without chorioretinopathy, lymphedema [qgenomics.com]

• Amyloidosis

  […] blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 GRN Aphasia, primary progressive, 607485 GRN Ceroid lipofuscinosis, neuronal, 11 614706 GRN Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 GSN Amyloidosis [qgenomics.com]

• Retinal Pigmentation

  It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. [ncbi.nlm.nih.gov]

  Punctata Albescens, Vitelliform Macular Dystrophy, Patterned Dystrophy Of Retinal Pigment Epithelium, Retinitis Pigmentosa, Adult-Onset Foveomacular Vitelliform Dystrophy, Retinitis Punctata Albescens, Stargardt Disease AD,AR 100 188 of 188 PRPS1 Arts [igenomix.es]

  […] pigmentosa 62 614181 MAPKAPK3 No OMIM phenotype 614181 MAPKAPK3 Martinique crinkled retinal pigment epitheliopathy (Meunier -2016 Hum Mol Gene 25,916) 614181 MERTK Retinitis pigmentosa 38 613862 MFN2 Charcot-Marie-Tooth disease, type 2A2, 609260 MFN2 [qgenomics.com]

• Febrile Seizures

  Convulsions, Usher Syndrome, Generalized Epilepsy With Febrile Seizures-Plus AD,AR 97.53 – AHR Retinitis Pigmentosa AR 99.91 2 of 2 AIPL1 Leber Congenital Amaurosis, Retinitis Pigmentosa, Cone Rod Dystrophy AD,AR,X,XR,G 89 82 of 82 ALMS1 Alstrom Syndrome [igenomix.es]

  Febrile seizures, familial, 4 604352 GRK1 Oguchi disease-2, 613411 GRM6 Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 GRN Aphasia, primary progressive, 607485 GRN Ceroid lipofuscinosis, neuronal, 11 614706 GRN Frontotemporal [qgenomics.com]

Clinical trial of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment. Arch. Ophthalmol. 2004;122(9):1297-305 25) Hassof RW, Fishman GA. [malattierare.regione.veneto.it]

Andersen, Systematic review: genetic biomarkers associated with anti-TNF treatment response in inflammatory bowel diseases. Aliment Pharmacol Ther, 2016. 44(6): p. 554-67. 12. Bayraktar, S. and B. [iemest.eu]

PMID: 23715550Free PMC Article Prognosis Ruff A, Tezel A, Tezel TH PLoS One 2022;17(10):e0276629. Epub 2022 Oct 21 doi: 10.1371/journal.pone.0276629. [ncbi.nlm.nih.gov]

Ragan, Breast cancer classification: linking molecular mechanisms to disease prognosis. Brief Bioinform, 2015. 16(3): p. 461-74. 21. Koopman, R.J. and A.G. Mainous, 3rd, Evaluating multivariate risk scores for clinical decision making. [iemest.eu]

PMID: 33895329Free PMC Article Etiology Gupta KK, Gurung G, Tulsyan N Nepal J Ophthalmol 2022 Jan;14(27):31-38. doi: 10.3126/nepjoph.v14i1.38977. [ncbi.nlm.nih.gov]

This complex picture represents a strong challenge towards the acknowledgement of diseases etiology, which could be fight by discovery and use of disease predisposing alleles. [iemest.eu]