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Lenticonus

MedGen UID:
116078
Concept ID:
C0239119
Congenital Abnormality
SNOMED CT: Lenticonus (253221000)
 
HPO: HP:0001142

Definition

A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly. [from HPO]

Conditions with this feature

X-linked diffuse leiomyomatosis-Alport syndrome
MedGen UID:
333429
Concept ID:
C1839884
Disease or Syndrome
A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females.
Cataract 16 multiple types
MedGen UID:
814707
Concept ID:
C3808377
Disease or Syndrome
Mutations in the CRYAB gene have been found to cause multiple types of cataract, which have been described as congenital posterior polar, congenital lamellar, and juvenile. Autosomal dominant and autosomal recessive forms have been described. The preferred title/symbol of this entry was formerly 'Cataract, Posterior Polar, 2; CTPP2.'
Autosomal dominant Alport syndrome
MedGen UID:
1648326
Concept ID:
C4746547
Disease or Syndrome
In Alport syndrome (AS) a spectrum of phenotypes ranging from progressive renal disease with extrarenal abnormalities to isolated hematuria with a non-progressive or very slowly progressive course is observed. Approximately two thirds of AS is X-linked (XLAS); approximately 15% is autosomal recessive (ARAS), and approximately 20% is autosomal dominant (ADAS). In the absence of treatment, renal disease progresses from microscopic hematuria (microhematuria) to proteinuria, progressive renal insufficiency, and end-stage renal disease (ESRD) in all males with XLAS, and in all males and females with ARAS. Progressive sensorineural hearing loss (SNHL) is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. In individuals with ADAS, ESRD is frequently delayed until later adulthood, SNHL is relatively late in onset, and ocular involvement is rare.
X-linked Alport syndrome
MedGen UID:
1648433
Concept ID:
C4746986
Disease or Syndrome
In Alport syndrome (AS) a spectrum of phenotypes ranging from progressive renal disease with extrarenal abnormalities to isolated hematuria with a non-progressive or very slowly progressive course is observed. Approximately two thirds of AS is X-linked (XLAS); approximately 15% is autosomal recessive (ARAS), and approximately 20% is autosomal dominant (ADAS). In the absence of treatment, renal disease progresses from microscopic hematuria (microhematuria) to proteinuria, progressive renal insufficiency, and end-stage renal disease (ESRD) in all males with XLAS, and in all males and females with ARAS. Progressive sensorineural hearing loss (SNHL) is usually present by late childhood or early adolescence. Ocular findings include anterior lenticonus (which is virtually pathognomonic), maculopathy (whitish or yellowish flecks or granulations in the perimacular region), corneal endothelial vesicles (posterior polymorphous dystrophy), and recurrent corneal erosion. In individuals with ADAS, ESRD is frequently delayed until later adulthood, SNHL is relatively late in onset, and ocular involvement is rare.

Professional guidelines

PubMed

Zhang Y, Ding J
Pediatr Nephrol 2018 Aug;33(8):1309-1316. Epub 2017 Sep 1 doi: 10.1007/s00467-017-3784-3. PMID: 28864840
Mistr SK, Trivedi RH, Wilson ME
J AAPOS 2008 Feb;12(1):58-61. Epub 2007 Oct 29 doi: 10.1016/j.jaapos.2007.08.003. PMID: 18029213
Cheng KP, Hiles DA, Biglan AW, Pettapiece MC
J Pediatr Ophthalmol Strabismus 1991 May-Jun;28(3):143-9; discussion 150. doi: 10.3928/0191-3913-19910501-07. PMID: 1890571

Recent clinical studies

Etiology

Kekunnaya R, Deshmukh AV, Kulkarni S
Eye (Lond) 2022 May;36(5):985-993. Epub 2021 May 6 doi: 10.1038/s41433-021-01564-4. PMID: 33958736Free PMC Article
Savige J, Colville D, Rheault M, Gear S, Lennon R, Lagas S, Finlay M, Flinter F
Clin J Am Soc Nephrol 2016 Sep 7;11(9):1713-1720. Epub 2016 Jun 10 doi: 10.2215/CJN.00580116. PMID: 27287265Free PMC Article
Savige J, Sheth S, Leys A, Nicholson A, Mack HG, Colville D
Clin J Am Soc Nephrol 2015 Apr 7;10(4):703-9. Epub 2015 Feb 3 doi: 10.2215/CJN.10581014. PMID: 25649157Free PMC Article
Wang Y, Sivakumar V, Mohammad M, Colville D, Storey H, Flinter F, Dagher H, Savige J
Pediatr Nephrol 2014 Mar;29(3):391-6. Epub 2013 Nov 2 doi: 10.1007/s00467-013-2643-0. PMID: 24178893
Ranchod TM, Quiram PA, Hathaway N, Ho LY, Glasgow BJ, Trese MT
Ophthalmology 2010 Sep;117(9):1843-7. Epub 2010 Apr 24 doi: 10.1016/j.ophtha.2009.12.045. PMID: 20417569

Diagnosis

Kekunnaya R, Deshmukh AV, Kulkarni S
Eye (Lond) 2022 May;36(5):985-993. Epub 2021 May 6 doi: 10.1038/s41433-021-01564-4. PMID: 33958736Free PMC Article
Bruni V, Petrisano M, Tarsitano F, Falvo F, Parisi F, Cucinotta U, Betta P, Di Benedetto V, Scuderi MG, Pensabene L, Sestito S, Cuppari C, Fede C, Chimenz R, Concolino D
J Biol Regul Homeost Agents 2019 Sep-Oct;33(5 Suppl. 1):19-24. Special Issue: Focus on Pediatric Nephrology. PMID: 31630709
Savige J, Sheth S, Leys A, Nicholson A, Mack HG, Colville D
Clin J Am Soc Nephrol 2015 Apr 7;10(4):703-9. Epub 2015 Feb 3 doi: 10.2215/CJN.10581014. PMID: 25649157Free PMC Article
Savige J, Colville D
Nat Rev Nephrol 2009 Jun;5(6):356-60. doi: 10.1038/nrneph.2009.65. PMID: 19474829
Colville DJ, Savige J
Ophthalmic Genet 1997 Dec;18(4):161-73. doi: 10.3109/13816819709041431. PMID: 9457747

Therapy

Ding Y, Zhang J, Huang Y
J Cataract Refract Surg 2024 Feb 1;50(2):146-152. doi: 10.1097/j.jcrs.0000000000001324. PMID: 37816250Free PMC Article
Sparasci D, Rossinelli A, Ferri R, Cippà P, Rinaldi A, Manconi M
BMC Nephrol 2021 Jul 5;22(1):249. doi: 10.1186/s12882-021-02455-2. PMID: 34225668Free PMC Article
Zhang Y, Ding J
Pediatr Nephrol 2018 Aug;33(8):1309-1316. Epub 2017 Sep 1 doi: 10.1007/s00467-017-3784-3. PMID: 28864840
Miner JH, Baigent C, Flinter F, Gross O, Judge P, Kashtan CE, Lagas S, Savige J, Blatt D, Ding J, Gale DP, Midgley JP, Povey S, Prunotto M, Renault D, Skelding J, Turner AN, Gear S
Kidney Int 2014 Oct;86(4):679-84. Epub 2014 Jul 2 doi: 10.1038/ki.2014.229. PMID: 24988067Free PMC Article
Tripathi RC, Cibis GW, Tripathi BJ
Ophthalmology 1986 Aug;93(8):1046-51. doi: 10.1016/s0161-6420(86)33622-4. PMID: 3763153

Prognosis

Kekunnaya R, Deshmukh AV, Kulkarni S
Eye (Lond) 2022 May;36(5):985-993. Epub 2021 May 6 doi: 10.1038/s41433-021-01564-4. PMID: 33958736Free PMC Article
Nicklason E, Mack H, Beltz J, Jacob J, Farahani M, Colville D, Savige J
Ophthalmic Genet 2020 Feb;41(1):13-19. Epub 2020 Mar 11 doi: 10.1080/13816810.2019.1709126. PMID: 32159412
Savige J, Colville D, Rheault M, Gear S, Lennon R, Lagas S, Finlay M, Flinter F
Clin J Am Soc Nephrol 2016 Sep 7;11(9):1713-1720. Epub 2016 Jun 10 doi: 10.2215/CJN.00580116. PMID: 27287265Free PMC Article
Savige J, Sheth S, Leys A, Nicholson A, Mack HG, Colville D
Clin J Am Soc Nephrol 2015 Apr 7;10(4):703-9. Epub 2015 Feb 3 doi: 10.2215/CJN.10581014. PMID: 25649157Free PMC Article
Amaya L, Taylor D, Russell-Eggitt I, Nischal KK, Lengyel D
Surv Ophthalmol 2003 Mar-Apr;48(2):125-44. doi: 10.1016/s0039-6257(02)00462-9. PMID: 12686301

Clinical prediction guides

Harding P, Toms M, Schiff E, Owen N, Bell S, Lloyd IC, Moosajee M
Int J Mol Sci 2021 Feb 22;22(4) doi: 10.3390/ijms22042190. PMID: 33671840Free PMC Article
Savige J, Sheth S, Leys A, Nicholson A, Mack HG, Colville D
Clin J Am Soc Nephrol 2015 Apr 7;10(4):703-9. Epub 2015 Feb 3 doi: 10.2215/CJN.10581014. PMID: 25649157Free PMC Article
Wang Y, Sivakumar V, Mohammad M, Colville D, Storey H, Flinter F, Dagher H, Savige J
Pediatr Nephrol 2014 Mar;29(3):391-6. Epub 2013 Nov 2 doi: 10.1007/s00467-013-2643-0. PMID: 24178893
Tan R, Colville D, Wang YY, Rigby L, Savige J
Clin J Am Soc Nephrol 2010 Jan;5(1):34-8. Epub 2009 Dec 3 doi: 10.2215/CJN.01030209. PMID: 19965530Free PMC Article
Anker MC, Arnemann J, Neumann K, Ahrens P, Schmidt H, König R
Am J Med Genet A 2003 Jun 15;119A(3):381-5. doi: 10.1002/ajmg.a.20019. PMID: 12784310

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