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Abnormality of vision

MedGen UID:
871352
Concept ID:
C4025846
Finding
Synonyms: Abnormality of sight; Vision issue
 
HPO: HP:0000504

Definition

Abnormality of eyesight (visual perception). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormality of vision

Conditions with this feature

Keratosis pilaris atrophicans
MedGen UID:
75520
Concept ID:
C0263428
Disease or Syndrome
Keratosis pilaris atrophicans (KPA) represents a group of rare genodermatoses characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. Keratosis pilaris of extensor surfaces of limbs is a common associated finding. Affected individuals may present with features that overlap between 3 subtypes, keratosis pilaris atrophicans faciei (KPAF), keratosis follicularis spinulosa decalvans (KFSD), and atrophoderma vermiculata (AVA; see 209700) (summary by Klar et al., 2015).
Autosomal recessive nonsyndromic hearing loss 35
MedGen UID:
324897
Concept ID:
C1837857
Disease or Syndrome
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene.
Microphthalmia, isolated, with coloboma 5
MedGen UID:
369356
Concept ID:
C1968843
Disease or Syndrome
Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene.
Kohlschutter-Tonz syndrome-like
MedGen UID:
1781649
Concept ID:
C5543202
Disease or Syndrome
Den Hoed-de Boer-Voisin syndrome (DHDBV) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. The phenotype is reminiscent of Kohlschutter-Tonz syndrome (KTZS; 226750). More variable features of DHDBV include visual defects, behavioral abnormalities, and nonspecific involvement of other organ systems (summary by den Hoed et al., 2021).

Professional guidelines

PubMed

Hochstetler A, Raskin J, Blazer-Yost BL
Eur J Med Res 2022 Sep 1;27(1):168. doi: 10.1186/s40001-022-00798-6. PMID: 36050779Free PMC Article
Stanton E, Urata M, Chen JF, Chai Y
Dis Model Mech 2022 Apr 1;15(4) Epub 2022 Apr 22 doi: 10.1242/dmm.049390. PMID: 35451466Free PMC Article
Jones L, Downie LE, Korb D, Benitez-Del-Castillo JM, Dana R, Deng SX, Dong PN, Geerling G, Hida RY, Liu Y, Seo KY, Tauber J, Wakamatsu TH, Xu J, Wolffsohn JS, Craig JP
Ocul Surf 2017 Jul;15(3):575-628. Epub 2017 Jul 20 doi: 10.1016/j.jtos.2017.05.006. PMID: 28736343

Recent clinical studies

Etiology

Hammill AM, Boscolo E
J Clin Invest 2024 Apr 15;134(8) doi: 10.1172/JCI172842. PMID: 38618955Free PMC Article
Zemanová M
Cesk Slov Oftalmol 2021 Winter;77(3):107–119. doi: 10.31348/2020/29. PMID: 34107689
Martín-Begué N, Saint-Gerons M
Arch Soc Esp Oftalmol 2016 Dec;91(12):577-588. Epub 2016 Jul 1 doi: 10.1016/j.oftal.2016.05.010. PMID: 27378455
Richa S, Yazbek JC
CNS Drugs 2010 Jun;24(6):501-26. doi: 10.2165/11533180-000000000-00000. PMID: 20443647
Traboulsi EI, De Becker I, Maumenee IH
Am J Ophthalmol 1992 Nov 15;114(5):579-83. doi: 10.1016/s0002-9394(14)74486-1. PMID: 1443019

Diagnosis

Zemanová M
Cesk Slov Oftalmol 2021 Winter;77(3):107–119. doi: 10.31348/2020/29. PMID: 34107689
Kumar V, Karunakaran A, Valakada J
Int Ophthalmol 2018 Feb;38(1):337-338. Epub 2017 Jan 3 doi: 10.1007/s10792-016-0437-7. PMID: 28050731
Katz BJ, Digre KB
Surv Ophthalmol 2016 Jul-Aug;61(4):466-77. Epub 2016 Feb 12 doi: 10.1016/j.survophthal.2016.02.001. PMID: 26875996
Clark-Gambelunghe MB, Clark DA
Pediatr Clin North Am 2015 Apr;62(2):367-84. Epub 2015 Jan 21 doi: 10.1016/j.pcl.2014.11.003. PMID: 25836703
Friedman DI, Jacobson DM
J Neuroophthalmol 2004 Jun;24(2):138-45. doi: 10.1097/00041327-200406000-00009. PMID: 15179068

Therapy

Zhang H, Gong R, Zhang X, Deng Y
Int Ophthalmol 2022 Nov;42(11):3625-3641. Epub 2022 Jun 22 doi: 10.1007/s10792-022-02355-w. PMID: 35731355Free PMC Article
Abreu D, Urano F
Trends Pharmacol Sci 2019 Oct;40(10):711-714. Epub 2019 Aug 13 doi: 10.1016/j.tips.2019.07.011. PMID: 31420094Free PMC Article
Song JL, Elkhunovich M, Rankin JH
Pediatr Emerg Care 2017 Oct;33(10):703-705. doi: 10.1097/PEC.0000000000001272. PMID: 28968308
Friedman DI, Jacobson DM
J Neuroophthalmol 2004 Jun;24(2):138-45. doi: 10.1097/00041327-200406000-00009. PMID: 15179068
Thompson HS
Arch Ophthalmol 1971 Oct;86(4):462-82. doi: 10.1001/archopht.1971.01000010464021. PMID: 4329269

Prognosis

Zhang H, Gong R, Zhang X, Deng Y
Int Ophthalmol 2022 Nov;42(11):3625-3641. Epub 2022 Jun 22 doi: 10.1007/s10792-022-02355-w. PMID: 35731355Free PMC Article
Karki P, Shrestha JK
Nepal J Ophthalmol 2009 Jul-Dec;1(2):139-40. doi: 10.3126/nepjoph.v1i2.3690. PMID: 21141008
Friedman DI, Jacobson DM
J Neuroophthalmol 2004 Jun;24(2):138-45. doi: 10.1097/00041327-200406000-00009. PMID: 15179068
Traboulsi EI, De Becker I, Maumenee IH
Am J Ophthalmol 1992 Nov 15;114(5):579-83. doi: 10.1016/s0002-9394(14)74486-1. PMID: 1443019
Steinmetz RL, Straatsma BR, Rubin ML
Am J Ophthalmol 1990 Mar 15;109(3):295-7. doi: 10.1016/s0002-9394(14)74553-2. PMID: 2309861

Clinical prediction guides

Ciprés M, Satue M, Melchor I, Gil-Arribas L, Vilades E, Garcia-Martin E
Arch Soc Esp Oftalmol (Engl Ed) 2022 Apr;97(4):205-218. Epub 2022 Mar 2 doi: 10.1016/j.oftale.2022.02.009. PMID: 35523467
Tug E, Dilek NF, Javadiyan S, Burdon KP, Percin FE
Gene 2013 Aug 1;525(1):141-5. Epub 2013 Apr 6 doi: 10.1016/j.gene.2013.03.094. PMID: 23566852
Levitt MA, Peña A
Orphanet J Rare Dis 2007 Jul 26;2:33. doi: 10.1186/1750-1172-2-33. PMID: 17651510Free PMC Article
Levi DM, Harwerth RS
Am J Optom Physiol Opt 1982 Dec;59(12):936-51. doi: 10.1097/00006324-198212000-00002. PMID: 7158652
Pruett RC
Am J Ophthalmol 1975 Oct;80(4):625-9. doi: 10.1016/0002-9394(75)90392-x. PMID: 1180303

Recent systematic reviews

Poondru S, Alvi S, LeWitt TM, Haddadin R, Kundu RV
Int J Dermatol 2023 Dec;62(12):1433-1436. Epub 2023 Nov 2 doi: 10.1111/ijd.16883. PMID: 37919864
Galor A, Britten-Jones AC, Feng Y, Ferrari G, Goldblum D, Gupta PK, Merayo-Lloves J, Na KS, Naroo SA, Nichols KK, Rocha EM, Tong L, Wang MTM, Craig JP
Ocul Surf 2023 Apr;28:262-303. Epub 2023 Apr 11 doi: 10.1016/j.jtos.2023.04.008. PMID: 37054911
Perais J, Agarwal R, Evans JR, Loveman E, Colquitt JL, Owens D, Hogg RE, Lawrenson JG, Takwoingi Y, Lois N
Cochrane Database Syst Rev 2023 Feb 22;2(2):CD013775. doi: 10.1002/14651858.CD013775.pub2. PMID: 36815723Free PMC Article
Choi C, Mukovozov I, Jazdarehee A, Rai R, Sachdeva M, Shunmugam M, Zaslavsky K, Byun S, Barankin B
Australas J Dermatol 2022 May;63(2):172-189. Epub 2022 Jan 31 doi: 10.1111/ajd.13790. PMID: 35099068
Strzelczyk A, Zöllner JP, Willems LM, Jost J, Paule E, Schubert-Bast S, Rosenow F, Bauer S
Epilepsia 2017 Jun;58(6):933-950. Epub 2017 Mar 11 doi: 10.1111/epi.13716. PMID: 28295226

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