Retinitis differential diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Ilan Dock, B.S.

Overview

As retinitis manifests in a variety of clinical forms, differentiation must be established in accordance with the particular subtype. Retinitis caused by genetic defects such as retinitis pigmentosa must be differentiated from other diseases that cause visual acuity, cone-rod dystrophy, night blindness, and vision loss. Infectious agents that cause retinitis must be differentiated from other ocular diseases that may cause lesions and retinal scarring.

Differential Diagnosis

Genetic Disorders

Disease	Definition
Usher syndrome	Usher syndrome is a relatively rare genetic disorder that is associated with a mutation in any one of 10 genes. .^[1] Usher syndrome is incurable at present; however, using gene therapy to replace the missing gene, researchers have succeeded in reversing one form of the disease in [[knockout mouse\|knockout mice Vision loss is commonly associated with retinitis pigmentosa (rp), a degeneration of the retinal cells. The rod cells of the retina are affected first, leading to early night blindness and the gradual loss of peripheral vision. There is often early degeneration of the cone cells in the macula, leading to a loss of central acuity. In some cases, the foveal vision is spared, leading to “doughnut vision”; central and peripheral vision are intact, but there is an annulus around the central region in which vision is impaired.
Leber congenital amaurosis (LCA)	Leber’s congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first few months of life, and affects around 1 in 80,000 of the population.^[2] LCA is typically characterized by nystagmus, sluggish or absent pupillary responses,^[3] and severe vision loss or blindness.
Bardet-Biedl syndrome	The Bardet-Biedl syndrome is a genetic disorder characterized mainly by obesity, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, renal dysplasia and renal failure in some cases.^[4] Results largely from a defect in basal body of ciliated cells. The gene products encoded by these BBS genes (BBS1 to BBS8, called BBS proteins, are located in the basal body and cilia of the cell.^[5] Differentiated by the presence of spasticity ^[6]
Cone and cone-rod dystrophy	A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. The most common symptoms of cone dystrophy are vision loss (age of onset ranging from the late teens to the sixties), sensitivity to bright lights, and poor color vision. Therefore, patients see better at dusk and have progressive difficulty with daytime vision. Visual acuity usually deteriorates gradually, but it can deteriorate rapidly to 20/200; later, in more severe cases, it drops to counting fingers vision. Color vision testing using color test plates (HRR series) reveals many errors on both red-green and blue-yellow plates.
Choroideremia	Choroideremia is an X-linked recessive retinal degenerative disease that leads to the degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Choroideremia is caused by the deletion of the Rab escort protein 1 (REP1). Choroideremia has been associated with night blindness in youth. As the disease progresses, a CHM sufferer loses their peripheral vision and depth perception, eventually losing all sight by middle age.

Infectious Agents

Infectious Agent	Clinical Manifestations
Cytomegalovirus	Physical evidence of a cytomegalovirus presence in one of both eyes will generally clinical present in the form of lesions, adjacent retinal vessels. These lesions may impinge upon the fovea and the optic nerve. Furthermore they are usually discovered in close proximity to both. Further extending lesions may be present in close proximity to the vortex veins as well as the ora serrata.^[7]
Tuberculosis	Caseating granulomas Multiple choroidal tubercles- small grayish nodules located on the posterior pole of the eye Yellow necrotizing granulomas^[7]\|
Fungal	Candida albicans Visibly hazy vitreous White circumscribed lesions^[7] Aspergillus fumigatus Yellow subretinal infiltrates Retinal infiltrates Fungal hyphae are located throughout the eye – suggestive of pulmonary involvement^[7] Cryptococcus neoformans Yellowish-white lesions located on the fundus of the eye Mutton-fat keratic precipitates^[7]
Toxoplasmosis	Localized areas of infiltrate Active lesions are adjacent to initial scarring^[7]
Syphilis	Hemorrhagic areas Flare visible in anterior and posterior portions^[7]

References

↑ Mets MB, Young NM, Pass A, Lasky JB (2000). “Early diagnosis of Usher syndrome in children”. Transactions of the American Ophthalmological Society. 98: 237&ndash, 245. PMID 11190026.
↑ Stone EM (December 2007). “Leber congenital amaurosis — a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture”. Am J Ophthalmol. 144 (6): 791–811. doi:10.1016/j.ajo.2007.08.022. PMID 17964524.
↑ Weleber RG, Francis PJ, Trzupek KM, Beattie C. “Leber Congenital Amaurosis”. GeneReviews. PMID 20301475.
↑ Beales P, Elcioglu N, Woolf A, Parker D, Flinter F (1999). “New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey”. J. Med. Genet. 36 (6): 437–46. PMID 10874630.
↑ Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N (2003). “Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome”. Nature. 425 (6958): 628–33. doi:10.1038/nature02030. PMID 14520415. Unknown parameter |month= ignored (help)
↑ Moore SJ, Green JS, Fan Y; et al. (2005). “Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study”. American Journal of Medical Genetics. Part a. 132 (4): 352–60. doi:10.1002/ajmg.a.30406. PMC 3295827. PMID 15637713. Unknown parameter |month= ignored (help)
↑ ^7.0 ^7.1 ^7.2 ^7.3 ^7.4 ^7.5 ^7.6 Infectious Retinitis: A Review. YACHNA AHUJA, MD · STEVEN M. COUCH, MD · RAYMUND R. RAZONABLE, MD · SOPHIE J. BAKRI, MD. http://www.retinalphysician.com/articleviewer.aspx?articleID=102293. Accessed April 13, 2016.

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[mets_2000-1] Mets MB, Young NM, Pass A, Lasky JB (2000). “Early diagnosis of Usher syndrome in children”. Transactions of the American Ophthalmological Society. 98: 237&ndash, 245. PMID 11190026.

[2] Stone EM (December 2007). “Leber congenital amaurosis — a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture”. Am J Ophthalmol. 144 (6): 791–811. doi:10.1016/j.ajo.2007.08.022. PMID 17964524.

[GR-3] Weleber RG, Francis PJ, Trzupek KM, Beattie C. “Leber Congenital Amaurosis”. GeneReviews. PMID 20301475.

[4] Beales P, Elcioglu N, Woolf A, Parker D, Flinter F (1999). “New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey”. J. Med. Genet. 36 (6): 437–46. PMID 10874630.

[pmid14520415-5] Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N (2003). “Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome”. Nature. 425 (6958): 628–33. doi:10.1038/nature02030. PMID 14520415. Unknown parameter |month= ignored (help)

[pmid15637713-6] Moore SJ, Green JS, Fan Y; et al. (2005). “Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study”. American Journal of Medical Genetics. Part a. 132 (4): 352–60. doi:10.1002/ajmg.a.30406. PMC 3295827. PMID 15637713. Unknown parameter |month= ignored (help)

[ret_phys-7] 7.0 ^7.1 ^7.2 ^7.3 ^7.4 ^7.5 ^7.6 Infectious Retinitis: A Review. YACHNA AHUJA, MD · STEVEN M. COUCH, MD · RAYMUND R. RAZONABLE, MD · SOPHIE J. BAKRI, MD. http://www.retinalphysician.com/articleviewer.aspx?articleID=102293. Accessed April 13, 2016.

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Retinitis differential diagnosis

Overview

Differential Diagnosis

Genetic Disorders

Infectious Agents

Candida albicans

Aspergillus fumigatus

Cryptococcus neoformans

References

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