Alex V. Levin
• Congenital hyperpigmented lesions of the fundus are differentiated based on appearance, pattern, and distribution in the ocular fundus and are present at birth.
• Includes: Grouped pigmentation (bear tracks), congenital hypertrophy of retinal pigmented epithelium (CHRPE), combined hamartoma of the retina, choroidal nevi, melanocytoma, chorioretinal scar (usually associated with hypopigmentation)
• Grouped pigmentation: 1.2/100 (3)
• Congenital hypertrophy of Retinal pigmented epithelium (CHRPE): 5 per 1,000 (3)
• Combined hamartoma of the retina: Precise frequency in the general population is unknown (3)
• Choroidal nevi: 10–13 per 100 (4)[B]
• Melanocytoma: Frequency in population is generally unknown (4)[B]
• Chorioretinal scar due to in utero toxoplasmosis: 1 in 10,000 live births (3)
• CHRPE: Family history of Gardner syndrome (adenomatous polyposis coli)
• Combined hamartoma of the retina and RPE: Family history of neurofibromatosis 2
• CHRPE lesions associated with mutations in the adenosis polyposis coli gene (APC, 5q21, autosomal dominant) if bilateral or >2 in one eye
• Combined hamartoma of the retina and RPE is associated with mutations in the gene for NF2 (22q12.2, autosomal dominant)
• Hyperpigmentation arises either from the neuroectodermal derived RPE or from melanocytes (neural crest) in the choroid
– Grouped pigmentation, CHRPE, and combined hamartoma arise from RPE
– Choroidal nevi arise from melanocytes in the choroid
– Melanocytoma is a benign optic nerve tumor of melanocytes with abundant melanin
• Migration and distribution of pigment containing cells may be dysfunctional during fetal development
• Pigment-containing cells may be altered genetically and by systemic and external stimuli (e.g., trauma, infection)
• Inflammatory/infectious conditions causing chorioretinal scar
COMMONLY ASSOCIATED CONDITIONS
• CHRPE: Gardner Syndrome and Turcot Syndrome (adenomatous polyposis coli, tumors of the brain and spinal cord)
Combined hamartoma of the retina and RPE is associated with iris hamartoma: Manifestations of NF2 include acoustic neuromas, meningiomas of the optic nerve, and presenile posterior polar cataracts.
• Chorioretinal scar can be a manifestation of intrauterine infection, which may also affect central nervous system
• History of prenatal infections (2)
• Family history of colon cancer, NF2
• For chorioretinal scars inquire about maternal history of ingestion of contaminated raw or undercooked beef, lamb, or pork, blood transfusions, organ transplants, or exposure to cats.
DIAGNOSTIC TESTS & INTERPRETATION
Initial lab tests
Follow-up & special considerations
• Genetic consult if genetic syndrome (2)
• Choroidal nevi and melanocytoma require serial follow-ups (4)[B] and photo imaging for risk of malignant potential or advancement of disease.
• Colonoscopy beginning at the age of 8 years if Gardner syndrome
• Serial audiology if NF2
• If combined hamartoma associated with NF2, MRI of brain
– B-Scan and OCT may be used to evaluate hyperpigmented lesions
Molecular genetic testing as appropriate and available (2)[C].
Amblyopia therapy as indicated (1)[B]
Issues for Referral
• If Gardner syndrome suspected: Gastroenterology (2)
• If NF2 suspected: Otorhinolaryngology and Neurosurgery (2)
• Activation of toxoplasmosis chorioretinal scar: Consider Infectious Disease consultation
• Progression of choroidal nevus or melanocytoma require referral to an Ocular Oncologist
Choroidal nevi and melanocytoma: Photo documentation and serial examination (4)[B]
• Visual acuity
• Photo documentation of tumor growth for potential malignant transformation
• Genetic counseling
• Visual acuity and low vision intervention as indicated
– Report concerns regarding hearing or neurologic change if NF2
1. Ellis FD. Selected pigmented fundus lesions of children. J AAPOS 2005;9(4):306–314.
2. Lee DA, Higginbotham EJ. Clinical guide to comprehensive ophthalmology. New York: Thieme New York, 1999:478–485.
3. Taylor D. Paediatric ophthalmology. Oxford: Blackwell Science Ltd, 1990:122–143, 153–154, 587–598, 614–620.
4. Shields CL, Furuta M, Mashayekhi A, et al. Clinical spectrum of choroidal nevi based on age at presentation in 3422 consecutive eyes. Ophthamology 2008;115(3):546.e2–552.e2.
5. Yanoff M, Duker JS. Ophthalmology, 3rd ed. New York, NY: Mosby, 2008:511–516, 552–554, 935–936.