eMedicine Specialties > Ophthalmology > Retina

Retinitis Pigmentosa: Differential Diagnoses & Workup

Author: David G Telander, MD, PhD, Assistant Professor, Department of Ophthalmology and Vision Science, Division of Vitreo-Retinal Diseases and Surgery, University of California Davis School of Medicine
Coauthor(s): Anthony de Beus, MD, PhD, Consulting Staff, Southwest Eye Centers; Kent W Small, MD, Director/President, Macular and Retinal Disease Center; President, Molecular Insight LLC; Consulting Surgeon, Glendale Eye Medical Group
Contributor Information and Disclosures

Updated: Aug 19, 2009

Differential Diagnoses

ARMD, Nonexudative
Neuroretinitis, Diffuse Unilateral Subacute
Best Disease
Retinoschisis, Juvenile
Chloroquine/Hydroxychloroquine Toxicity
Chorioretinopathy, Central Serous
Chronic Progressive External Ophthalmoplegia

Other Problems to Be Considered

Infectious causes: Toxoplasmosis, other infections, rubella, cytomegalovirus infection, and herpes simplex (TORCH); congenital rubella; syphilis

Inherited: Choroideremia, gyrate atrophy, Stargardt/fundus flavimaculatus, North Carolina macular dystrophy (NCMD), Bietti syndrome, pattern dystrophies, ocular albinism, cystinosis


Choroideremia.

Choroideremia.

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Choroideremia.

Choroideremia.



Toxicity: Thioridizine toxicity, oxalosis

Neoplasm: Cancer-associated retinopathy (CAR)

Inflammatory: Serous uveitis

Metabolic: Refsum disease, abetalipoproteinemia

Workup

Laboratory Studies

  • The tests described below are useful in excluding masquerading diseases or in detecting conditions that are associated with retinitis pigmentosa (RP).
  • Infectious lab tests
    • Syphilis
      • Venereal Disease Research Laboratory (VDRL) test
      • Fluorescent treponemal antibody absorption (FTA-ABS) test
    • Toxoplasmosis (when suspected) – Serum immunoglobulin G (IgG)
  • Inherited/syndromic disease lab tests
    • Refsum disease - Serum phytanic acid in the presence of other neurologic abnormalities
    • Gyrate atrophy - Ornithine levels
    • Kearns-Sayre syndrome - ECG to help rule out heart block
    • Abetalipoproteinemia - Lipid profile with possible protein electrophoresis
  • Neoplasm related lab tests: Antiretinal antibodies, particularly antirecoverin antibodies, may be observed, especially in CAR or in severe cases of RP. Commercial tests are available.

Imaging Studies

  • Although fluorescein angiography is rarely useful to the clinician in diagnosing RP, the presence of cystoid macular edema can be confirmed by this test.
  • Optical coherence tomography (OCT) can be helpful to document the extent and/or presence of cystoid macular edema. OCT is not useful in helping to establish a diagnosis of RP.

Other Tests

  • Electroretinogram
    • ERG is the most critical diagnostic test for RP because it provides an objective measure of rod and cone function across the retina and is sensitive to even mild photoreceptor impairment.
    • The full-field ERG in RP typically shows a marked reduction of both rod and cone signals, although rod loss generally predominates.
    • A and b waves are reduced since the primary site of disease is at the photoreceptors or RPE.
    • The ERG is usually abnormal by early childhood, except for some of the very mild and regional forms of RP.
    • By contrast, the diagnosis for cone dystrophies is aided in part by clinical findings but more definitively by the ERG. Severe and selective loss of cone function occurs with varying degrees of rod abnormality.
    • In fundus albipunctatus, ERG recordings have absent rod function; after 3-4 hours of dark adaptation, ERG findings may be normal.
    • Congenital stationary night blindness displays a negative waveform on ERG.
  • Electro-oculogram (EOG)
    • Findings are always abnormal when ERG findings are abnormal; therefore, EOG is not helpful to the clinician in diagnosing RP.
    • Central macular changes, normal ERG findings, and abnormal EOG findings suggest Best vitelliform macular dystrophy.
  • Visually evoked cortical potentials (VECPs) rarely provide additional information to the clinician when diagnosing RP.
  • Formal visual field
    • Progressive loss of peripheral vision is a major symptom along with visual acuity changes; therefore, this test is the most useful measure for ongoing follow-up care of patients with RP.
    • Goldmann (kinetic) perimetry is recommended, as it can more easily detect progressive visual field changes.
    • Midperipheral scotomas develop early in RP. These visual field defects can join together to form a ring scotoma. Patients can go on to develop constricted visual fields or tunnel vision. Some patients progress to being legally blind with central vision intact, but peripheral vision is limited to less than 20°.
  • Color testing: Mild blue-yellow axis color defects are common, although most patients with RP do not clinically complain of major difficulty with color perception.
  • Dark adaptation
    • Contrast sensitivity often is reduced out of proportion to visual acuity in patients with RP. Patients are usually sensitive to bright light.
    • Patients with fundus albipunctatus have poor dark adaptation but may have normal results after 3-4 hours of adaptation.
  • Genetic subtyping
    • Because of the wide variety of subtypes of so-called RP or related pigmentary retinopathies, the definitive test for diagnosis is identifying the particular defect.
    • Genetic subtyping will become more useful as therapies begin to target specific genetic subtypes. In addition, identifying the gene may prove helpful in determining the prognosis and in providing genetic counseling.
    • Medical insurance will not always pay for genetic testing; however, the cost of these tests continues to decrease.

Histologic Findings

Histology is not clinically helpful. Because of the general good health of patients with RP and the chronic nature of the disease, histology usually has been obtained only on chronically atrophic retinas. Nonspecific atrophy of the sensory retina with hyperplastic changes in the RPE is observed. Animal studies of experimental RP models show cellular apoptosis in some varieties; in others, abnormalities of the rod outer segments are observed.

More on Retinitis Pigmentosa

Overview: Retinitis Pigmentosa
Differential Diagnoses & Workup: Retinitis Pigmentosa
Treatment & Medication: Retinitis Pigmentosa
Follow-up: Retinitis Pigmentosa
Multimedia: Retinitis Pigmentosa
References
Further Reading
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Keywords

retinitis pigmentosa, RP, night blindness, tunnel vision, peripheral vision, retinal dystrophies, hereditary dystrophies of the retinal pigment epithelium, retinal pigment epithelium, RPE, congenital stationary night blindness, CSNB, rod-cone dystrophies, cone-rod dystrophies, nyctalopia, loss of night vision, tunnel vision, loss of peripheral vision, Usher syndrome, Bardet-Biedl syndrome, Kearns-Sayre syndrome, Batten-Mayou disease, Vogt-Spielmeyer disease, retinal dystrophies, cystic macular edema, bull's eye maculopathy, Mizuo-Nakamura effect, choroideremia, gyrate atrophy, myopic degeneration, retinitis punctata albescens, ocular albinism, Waardenburg syndrome, Alström syndrome, Alport syndrome, Refsum disease, Lawrence-Moon syndrome, Hurler syndrome, Scheie syndrome, Sanfilippo syndrome, ptosis, external ophthalmoplegia, heart block, Gass adult foveal macular dystrophy, pattern dystrophy, Stargardt disease, Stargardt-like disease, congenital stationary night blindness, retinal renal syndromes, Leber congenital amaurosis, mitochondrial myopathies, congenital rubella, mucopolysaccharidoses, renal-retinal dysplasia, anterior lenticonus, neuronal ceroid lipofuscinosis, Jansky-Bielschowsky disease, Vogt-Spielmeyer-Batten disease, Kufs syndrome, abetalipoproteinemia, peroxisomal disorders, Zellweger syndrome, phytanic acid storage disease, pseudo-Zellweger syndrome, mitochondrial disorders

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Contributor Information and Disclosures

Author

David G Telander, MD, PhD, Assistant Professor, Department of Ophthalmology and Vision Science, Division of Vitreo-Retinal Diseases and Surgery, University of California Davis School of Medicine
David G Telander, MD, PhD is a member of the following medical societies: American Academy of Ophthalmology, American Medical Association, American Society of Cataract and Refractive Surgery, and Association for Research in Vision and Ophthalmology
Disclosure: Nothing to disclose.

Coauthor(s)

Anthony de Beus, MD, PhD, Consulting Staff, Southwest Eye Centers
Anthony de Beus, MD, PhD is a member of the following medical societies: American Academy of Ophthalmology and Association for Research in Vision and Ophthalmology
Disclosure: Nothing to disclose.

Kent W Small, MD, Director/President, Macular and Retinal Disease Center; President, Molecular Insight LLC; Consulting Surgeon, Glendale Eye Medical Group
Kent W Small, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for the Advancement of Science, American College of Physician Executives, American Medical Association, American Medical Informatics Association, American Ophthalmological Society, American Society of Human Genetics, Association for Research in Vision and Ophthalmology, California Medical Association, Macula Society, Pan-American Association of Ophthalmology, and Retina Society
Disclosure: Nothing to disclose.

Medical Editor

Russell P Jayne, MD, Consulting Vitreoretinal Surgeon, The Retina Center at Las Vegas
Russell P Jayne, MD is a member of the following medical societies: American Medical Association, American Society of Cataract and Refractive Surgery, and American Society of Retina Specialists
Disclosure: Nothing to disclose.

Pharmacy Editor

Simon K Law, MD, PharmD, Assistant Professor of Ophthalmology, Jules Stein Eye Institute; Chief of Section of Ophthalmology Surgical Services, Department of Veterans Affairs Healthcare Center, West Los Angeles
Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, American Glaucoma Society, and Association for Research in Vision and Ophthalmology
Disclosure: Nothing to disclose.

Managing Editor

Steve Charles, MD, Director of Charles Retina Institute; Clinical Professor, Department of Ophthalmology, University of Tennessee College of Medicine; Adjunct Professor of Ophthalmology, Columbia College of Physicians & Surgeons; Clinical Professor Ophthalmology, Chinese University of Hong Kong
Steve Charles, MD is a member of the following medical societies: American Academy of Ophthalmology, American Society of Retina Specialists, Club Jules Gonin, Macula Society, and Retina Society
Disclosure: Alcon Laboratories Consulting fee Consulting; OptiMedica Ownership interest Consulting

CME Editor

Lance L Brown, OD, MD, Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri
Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy Sr, MD, Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences
Hampton Roy Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, and Pan-American Association of Ophthalmology
Disclosure: Nothing to disclose.

 
 
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