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Subcapsular cataract

MedGen UID:
65903
Concept ID:
C0235259
Acquired Abnormality; Finding
Synonyms: Cataract, subcapsular; Subcapsular cataracts; Subcapsular lenticular cataracts; Subcapsular opacities
SNOMED CT: Subcapsular cataract (95723009)
 
HPO: HP:0000523

Definition

A cataract that affects the region of the lens directly beneath the capsule of the lens. [from HPO]

Conditions with this feature

Triglyceride storage disease with ichthyosis
MedGen UID:
82780
Concept ID:
C0268238
Disease or Syndrome
Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive nonlysosomal inborn error of neutral lipid metabolism. Patients present with an nonbullous erythrodermic form of ichthyosis, with variable involvement of other organs, such as liver, central nervous system, eyes, and ears. Intracellular triacylglycerol droplets are present in most tissues, and diagnosis can be confirmed by a simple blood smear, in which the characteristic lipid droplets are observed in the cytoplasm of granulocytes (summary by Lefevre et al., 2001).
Alstrom syndrome
MedGen UID:
78675
Concept ID:
C0268425
Disease or Syndrome
Alström syndrome is characterized by cone-rod dystrophy, obesity, progressive bilateral sensorineural hearing impairment, acute infantile-onset cardiomyopathy and/or adolescent- or adult-onset restrictive cardiomyopathy, insulin resistance / type 2 diabetes mellitus (T2DM), nonalcoholic fatty liver disease (NAFLD), and chronic progressive kidney disease. Cone-rod dystrophy presents as progressive visual impairment, photophobia, and nystagmus usually starting between birth and age 15 months. Many individuals lose all perception of light by the end of the second decade, but a minority retain the ability to read large print into the third decade. Children usually have normal birth weight but develop truncal obesity during their first year. Sensorineural hearing loss presents in the first decade in as many as 70% of individuals and may progress to the severe or moderately severe range (40-70 db) by the end of the first to second decade. Insulin resistance is typically accompanied by the skin changes of acanthosis nigricans, and proceeds to T2DM in the majority by the third decade. Nearly all demonstrate hypertriglyceridemia. Other findings can include endocrine abnormalities (hypothyroidism, hypogonadotropic hypogonadism in males, and hyperandrogenism in females), urologic dysfunction / detrusor instability, progressive decrease in renal function, and hepatic disease (ranging from elevated transaminases to steatohepatitis/NAFLD). Approximately 20% of affected individuals have delay in early developmental milestones, most commonly in gross and fine motor skills. About 30% have a learning disability. Cognitive impairment (IQ <70) is very rare. Wide clinical variability is observed among affected individuals, even within the same family.
Retinitis pigmentosa 13
MedGen UID:
325486
Concept ID:
C1838702
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene.
Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
MedGen UID:
340317
Concept ID:
C1849401
Disease or Syndrome
A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.
Exudative vitreoretinopathy 1
MedGen UID:
343561
Concept ID:
C1851402
Disease or Syndrome
Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010). In 31 Chinese pedigrees clinically diagnosed with FEVR, Rao et al. (2017) analyzed 6 FEVR-associated genes and identified mutations in 12 of the probands, including 5 (16.1%) in LRP5, 3 (9.7%) in NDP, 2 (6.5%) in FZD4, and 1 (3.2%) in TSPAN12. In addition, a mutation in the KIF11 gene (148760) was identified in a patient who also exhibited microcephaly (MCLMR; 152950). The authors noted that their detection rate did not exceed 50%, suggesting that other FEVR-associated genes remained to be discovered. Genetic Heterogeneity of Familial Exudative Vitreoretinopathy Also see EVR2 (305390), caused by mutation in the NDP gene (300658) on chromosome Xp11; EVR3 (605750), mapped to 11p13-p12; EVR4 (601813), caused by mutations in the LRP5 gene (603506) on 11q13.4; EVR5 (613310), caused by mutation in the TSPAN12 gene (613138) on 7q31; EVR6 (616468), caused by mutation in the ZNF408 gene (616454) on 11p11; and EVR7 (617572), caused by mutation in the CTNNB1 gene (116806) on chromosome 3p22.
Exudative vitreoretinopathy 4
MedGen UID:
356171
Concept ID:
C1866176
Disease or Syndrome
Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010). For a discussion of genetic heterogeneity of familial exudative vitreoretinopathy, see EVR1 (133780).
PHARC syndrome
MedGen UID:
436373
Concept ID:
C2675204
Disease or Syndrome
Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.

Professional guidelines

PubMed

Teo ZL, Soh ZD, Tham YC, Yu M, Chee ML, Thakur S, Nongpiur ME, Koh V, Wong TY, Aung T, Cheng CY
Ophthalmology 2022 Jul;129(7):792-802. Epub 2022 Mar 16 doi: 10.1016/j.ophtha.2022.03.009. PMID: 35306094
Gawchik SM, Saccar CL
Drug Saf 2000 Oct;23(4):309-22. doi: 10.2165/00002018-200023040-00004. PMID: 11051218
Cumming RG, Mitchell P
Drug Saf 1999 Jan;20(1):77-84. doi: 10.2165/00002018-199920010-00007. PMID: 9935278

Recent clinical studies

Etiology

Mansour AM, Ahmed IIK, Charbaji AR, Mansour HA, El Jawhari KM
Eye (Lond) 2022 Jan;36(1):193-197. Epub 2021 Mar 5 doi: 10.1038/s41433-021-01482-5. PMID: 33674725Free PMC Article
Bullimore MA, Ritchey ER, Shah S, Leveziel N, Bourne RRA, Flitcroft DI
Ophthalmology 2021 Nov;128(11):1561-1579. Epub 2021 May 4 doi: 10.1016/j.ophtha.2021.04.032. PMID: 33961969
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Kačmař J, Cholevík D
Cesk Slov Oftalmol 2019 Summer;74(6):226-232. doi: 10.31348/2018/6/2. PMID: 31238690
Chylack LT Jr, Wolfe JK, Singer DM, Leske MC, Bullimore MA, Bailey IL, Friend J, McCarthy D, Wu SY
Arch Ophthalmol 1993 Jun;111(6):831-6. doi: 10.1001/archopht.1993.01090060119035. PMID: 8512486

Diagnosis

Keenan TDL, Chen Q, Agrón E, Tham YC, Goh JHL, Lei X, Ng YP, Liu Y, Xu X, Cheng CY, Bikbov MM, Jonas JB, Bhandari S, Broadhead GK, Colyer MH, Corsini J, Cousineau-Krieger C, Gensheimer W, Grasic D, Lamba T, Magone MT, Maiberger M, Oshinsky A, Purt B, Shin SY, Thavikulwat AT, Lu Z, Chew EY; AREDS Deep Learning Research Group
Ophthalmology 2022 May;129(5):571-584. Epub 2022 Jan 3 doi: 10.1016/j.ophtha.2021.12.017. PMID: 34990643Free PMC Article
Mansour AM, Ahmed IIK, Charbaji AR, Mansour HA, El Jawhari KM
Eye (Lond) 2022 Jan;36(1):193-197. Epub 2021 Mar 5 doi: 10.1038/s41433-021-01482-5. PMID: 33674725Free PMC Article
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Kačmař J, Cholevík D
Cesk Slov Oftalmol 2019 Summer;74(6):226-232. doi: 10.31348/2018/6/2. PMID: 31238690
Li J, Tripathi RC, Tripathi BJ
Drug Saf 2008;31(2):127-41. doi: 10.2165/00002018-200831020-00003. PMID: 18217789

Therapy

Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Kačmař J, Cholevík D
Cesk Slov Oftalmol 2019 Summer;74(6):226-232. doi: 10.31348/2018/6/2. PMID: 31238690
Buttgereit F, Matteson EL, Dejaco C, Dasgupta B
Rheumatology (Oxford) 2018 Feb 1;57(suppl_2):ii11-ii21. doi: 10.1093/rheumatology/kex459. PMID: 29982779
Yam JC, Kwok AK
Int Ophthalmol 2014 Apr;34(2):383-400. Epub 2013 May 31 doi: 10.1007/s10792-013-9791-x. PMID: 23722672
Li J, Tripathi RC, Tripathi BJ
Drug Saf 2008;31(2):127-41. doi: 10.2165/00002018-200831020-00003. PMID: 18217789

Prognosis

He M, Wu T, Zhang L, Ye W, Ma J, Zhao C, Liu J, Zhou J
Acta Ophthalmol 2022 Feb;100(1):e278-e287. Epub 2021 Jun 2 doi: 10.1111/aos.14880. PMID: 34080305
Bullimore MA, Ritchey ER, Shah S, Leveziel N, Bourne RRA, Flitcroft DI
Ophthalmology 2021 Nov;128(11):1561-1579. Epub 2021 May 4 doi: 10.1016/j.ophtha.2021.04.032. PMID: 33961969
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Gimbel HV, LeClair BM, Jabo B, Marzouk H
Can J Ophthalmol 2018 Oct;53(5):518-522. Epub 2018 Mar 28 doi: 10.1016/j.jcjo.2017.11.018. PMID: 30340721
Younan C, Mitchell P, Cumming RG, Rochtchina E, Wang JJ
Invest Ophthalmol Vis Sci 2002 Dec;43(12):3625-32. PMID: 12454028

Clinical prediction guides

He M, Wu T, Zhang L, Ye W, Ma J, Zhao C, Liu J, Zhou J
Acta Ophthalmol 2022 Feb;100(1):e278-e287. Epub 2021 Jun 2 doi: 10.1111/aos.14880. PMID: 34080305
Mansour AM, Ahmed IIK, Charbaji AR, Mansour HA, El Jawhari KM
Eye (Lond) 2022 Jan;36(1):193-197. Epub 2021 Mar 5 doi: 10.1038/s41433-021-01482-5. PMID: 33674725Free PMC Article
Bullimore MA, Ritchey ER, Shah S, Leveziel N, Bourne RRA, Flitcroft DI
Ophthalmology 2021 Nov;128(11):1561-1579. Epub 2021 May 4 doi: 10.1016/j.ophtha.2021.04.032. PMID: 33961969
Kačmař J, Cholevík D
Cesk Slov Oftalmol 2019 Summer;74(6):226-232. doi: 10.31348/2018/6/2. PMID: 31238690
Chylack LT Jr, Wolfe JK, Singer DM, Leske MC, Bullimore MA, Bailey IL, Friend J, McCarthy D, Wu SY
Arch Ophthalmol 1993 Jun;111(6):831-6. doi: 10.1001/archopht.1993.01090060119035. PMID: 8512486

Recent systematic reviews

Khojasteh H, Riazi-Esfahani H, Mirghorbani M, Khalili Pour E, Mahmoudi A, Mahdizad Z, Akhavanrezayat A, Ghoraba H, Do DV, Nguyen QD
J Cataract Refract Surg 2023 Mar 1;49(3):312-320. Epub 2022 Nov 21 doi: 10.1097/j.jcrs.0000000000001101. PMID: 36730350Free PMC Article
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Beltrán-Zambrano E, García-Lozada D, Ibáñez-Pinilla E
Arch Soc Esp Oftalmol (Engl Ed) 2019 Feb;94(2):60-74. Epub 2018 Dec 7 doi: 10.1016/j.oftal.2018.10.020. PMID: 30528895
Modenese A, Gobba F
Acta Ophthalmol 2018 Dec;96(8):779-788. Epub 2018 Apr 16 doi: 10.1111/aos.13734. PMID: 29682903Free PMC Article
Hammer GP, Scheidemann-Wesp U, Samkange-Zeeb F, Wicke H, Neriishi K, Blettner M
Radiat Environ Biophys 2013 Aug;52(3):303-19. Epub 2013 Jun 27 doi: 10.1007/s00411-013-0477-6. PMID: 23807741

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