U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Macular crystals

MedGen UID:
892788
Concept ID:
C4072988
Finding
HPO: HP:0030501

Definition

Crystalline deposits in the macula. [from HPO]

Conditions with this feature

Sjögren-Larsson syndrome
MedGen UID:
11443
Concept ID:
C0037231
Disease or Syndrome
Sjogren-Larsson syndrome (SLS) is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, impaired intellectual development, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006).
Retinitis pigmentosa 73
MedGen UID:
907690
Concept ID:
C4225287
Disease or Syndrome
Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene.

Professional guidelines

PubMed

Krebs I, Binder S, Stolba U
Graefes Arch Clin Exp Ophthalmol 2006 Jul;244(7):863-7. Epub 2005 Dec 6 doi: 10.1007/s00417-005-0155-8. PMID: 16331486
Jonas JB
Acta Ophthalmol Scand 2005 Dec;83(6):645-63. doi: 10.1111/j.1600-0420.2005.00592.x. PMID: 16396641
Nadim F, Walid H, Adib J
Int Ophthalmol 2001;24(3):113-21. doi: 10.1023/a:1021189215498. PMID: 12498506

Recent clinical studies

Etiology

Birtel J, Herrmann P, Garrelfs SF, Dulz S, Atiskova Y, Diederen RM, Gliem M, Brinkert F, Holz FG, Boon CJF, Hoppe B, Charbel Issa P
Am J Ophthalmol 2019 Oct;206:184-191. Epub 2019 May 10 doi: 10.1016/j.ajo.2019.04.036. PMID: 31078535
Fine HF, Reshef ER, Prenner JL, Shah SP, Grossniklaus HE, Roth DB
Retina 2019 Apr;39(4):761-765. doi: 10.1097/IAE.0000000000002007. PMID: 29293206
Parkkari M, Paakkala AM, Salminen L, Holli K; Finnish Breast Cancer Group
Acta Ophthalmol Scand 2003 Oct;81(5):495-9. doi: 10.1034/j.1600-0420.2003.00116.x. PMID: 14510798

Diagnosis

Morettin CE, Ittner EA
Optom Vis Sci 2021 Dec 1;98(12):1403-1407. doi: 10.1097/OPX.0000000000001815. PMID: 34905528
Atchison EA, Flood TP
Retin Cases Brief Rep 2021 Jan 1;15(1):81-83. doi: 10.1097/ICB.0000000000000740. PMID: 29528887
Birtel J, Herrmann P, Garrelfs SF, Dulz S, Atiskova Y, Diederen RM, Gliem M, Brinkert F, Holz FG, Boon CJF, Hoppe B, Charbel Issa P
Am J Ophthalmol 2019 Oct;206:184-191. Epub 2019 May 10 doi: 10.1016/j.ajo.2019.04.036. PMID: 31078535
Ardemani G, Govaert P, Oussoren E, Dorresteijn E, Wildschut E, Lequin M, Dudink J
Eur J Paediatr Neurol 2017 Sep;21(5):792-794. Epub 2017 Jun 15 doi: 10.1016/j.ejpn.2017.06.003. PMID: 28651815
Traill A, Zamir E, Russell D
Ocul Immunol Inflamm 2006 Feb;14(1):63-5. doi: 10.1080/09273940500545619. PMID: 16507495

Therapy

Fine HF, Reshef ER, Prenner JL, Shah SP, Grossniklaus HE, Roth DB
Retina 2019 Apr;39(4):761-765. doi: 10.1097/IAE.0000000000002007. PMID: 29293206
Jeng KW, Wheatley HM
Retin Cases Brief Rep 2015 Winter;9(1):64-6. doi: 10.1097/ICB.0000000000000093. PMID: 25383850
Parkkari M, Paakkala AM, Salminen L, Holli K; Finnish Breast Cancer Group
Acta Ophthalmol Scand 2003 Oct;81(5):495-9. doi: 10.1034/j.1600-0420.2003.00116.x. PMID: 14510798

Prognosis

Fine HF, Reshef ER, Prenner JL, Shah SP, Grossniklaus HE, Roth DB
Retina 2019 Apr;39(4):761-765. doi: 10.1097/IAE.0000000000002007. PMID: 29293206
Parkkari M, Paakkala AM, Salminen L, Holli K; Finnish Breast Cancer Group
Acta Ophthalmol Scand 2003 Oct;81(5):495-9. doi: 10.1034/j.1600-0420.2003.00116.x. PMID: 14510798

Clinical prediction guides

Fine HF, Reshef ER, Prenner JL, Shah SP, Grossniklaus HE, Roth DB
Retina 2019 Apr;39(4):761-765. doi: 10.1097/IAE.0000000000002007. PMID: 29293206
Traill A, Zamir E, Russell D
Ocul Immunol Inflamm 2006 Feb;14(1):63-5. doi: 10.1080/09273940500545619. PMID: 16507495
Parkkari M, Paakkala AM, Salminen L, Holli K; Finnish Breast Cancer Group
Acta Ophthalmol Scand 2003 Oct;81(5):495-9. doi: 10.1034/j.1600-0420.2003.00116.x. PMID: 14510798

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...