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]

• Pallor

  Retinal thinning, bone spicule pigmentation, vascular attenuation, optic disc pallor, and pigmentary atrophy have all been noted. [disorders.eyes.arizona.edu]

  Optic disc pallor MedGen UID: 108218 •Concept ID: C0554970 • Finding A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. [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]

• Night Blindness

  You are here Search For A Disorder Clinical Characteristics Ocular Features: Onset of night blindness and field constriction symptoms occur during the 4th and 5th decades of life. [disorders.eyes.arizona.edu]

  Night blindness, congenital stationary, type 1G, 616389 GNAT2 Achromatopsia-4, 613856 GNB3 Night blindness, congenital stationary, type 1H, 617024 GNB3 {Hypertension, essential, susceptibility to}, 145500 GNPTG Mucolipidosis III gamma, 252605 GPR143 Nystagmus [qgenomics.com]

  Blindness X,XR,G 100 – CACNA2D4 Retinal Cone Dystrophy, Cone Rod Dystrophy, Congenital Stationary Night Blindness AR 99.64 7 of 7 CC2D2A Coach Syndrome, Joubert Syndrome, Meckel Syndrome AR 99.43 98 of 100 CCDC103 Primary Ciliary Dyskinesia AR 99.92 [igenomix.es]

  [from MONDO] From HPO Night blindness MedGen UID: 10349 •Concept ID: C0028077 • Disease or Syndrome Inability to see well at night or in poor light. [ncbi.nlm.nih.gov]

• Visual Impairment

  Attenuation of retinal blood vessels MedGen UID: 480605 •Concept ID: C3278975 • Finding Visual impairment MedGen UID: 777085 •Concept ID: C3665347 • Finding Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify [ncbi.nlm.nih.gov]

• Visual Impairment

  Attenuation of retinal blood vessels MedGen UID: 480605 •Concept ID: C3278975 • Finding Visual impairment MedGen UID: 777085 •Concept ID: C3665347 • Finding Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify [ncbi.nlm.nih.gov]

Treatment Treatment Options: No treatment has been reported for this disorder. [disorders.eyes.arizona.edu]

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]

PMID: 29879277Free PMC Article Prognosis Krauss E, Macher J, Capasso J, Bernhardt B, Ali-KhanCatts Z, Levin A, Brandt R Ophthalmic Genet 2022 Oct;43(5):633-640. Epub 2022 Jul 7 doi: 10.1080/13816810.2022.2096243. [ncbi.nlm.nih.gov]

[…] electroretinogram Attenuation of retinal blood vessels Bone spicule pigmentation of the retina Night blindness Optic disc pallor Peripheral visual field loss Pigmentary retinopathy Posterior subcapsular cataract Rod-cone dystrophy Visual impairment Etiology [ncbi.nlm.nih.gov]