Pigmented fundus lesions

The CMGs are guidelines on the diagnosis and management of a range of common and rare, but important, eye conditions that present with varying frequency in primary and first contact care.

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Aetiology 

Pigmented lesions of the choroid are a relatively common finding in the course of a routine examination of the fundus. The overwhelming majority are choroidal naevi, which are benign with a low risk of malignant transformation. Congenital hypertrophy of the retinal pigment epithelium has distinctive ophthalmoscopic features. Choroidal melanoma is a rare and life-threatening melanocytic tumour that can sometimes be difficult to distinguish from naevus.

Choroidal naevus

  • Area of increased choroidal pigmentation
    - approx. 20% within the macular region, 70% between macula and equator and 10% between equator and ora serrata
  • Low malignant potential (<1%)
  • Prevalence reported as 2-5% (based on large cross-sectional studies of multi-ethnic populations of US adults >40 years using retinal imaging). A higher prevalence (6.5%) was found in the Blue Mountains Eye Study (BMES) cohort of largely white Australians (99%), aged 49-97 years. Population studies in other ethnicities report a lower prevalence: Hispanics (2.7%), African Americans (0.6%)

Congenital hypertrophy of the Retinal Pigment Epithelium (CHRPE)

  • Benign congenital anomaly of the retinal pigment epithelium (RPE)
  • Area of increased RPE hypertrophy and hyperpigmentation
  • Malignant transformation is extremely rare, although documented enlargement in observed in 46% of those followed up photographically for >3 years

Uveal melanoma

  • 90% are choroidal, 6% arise from the ciliary body and 4% from the iris
  • 1.3-8.6 cases per million per year in European-derived populations
  • Life-threatening ocular malignancy (risk of metastatic disease)
    - detection and treatment at earliest stage improves prognosis
  • Risk of metastases related to genetic tumour profile, mortality occurring almost exclusively in patients whose tumour shows chromosome 3 loss (monosomy). Greater tumour thickness indicates greater likelihood of lethal mutations and hence increased risk of metastasis
  • Outcome poor once metastasis occurs; 1 year survival in 10-15%
  • Mean age at presentation 60 years (but can occur at any age)

Predisposing factors 

Choroidal naevus

  • Prevalence increases with age
  • Ethnicity: higher in whites than in blacks

Choroidal melanoma

  • Melanoma mostly arises de novo but can rarely develop from congenital ocular melanocytosis, ocular melanocytoma or naevus. Clinical features indicating malignancy include: symptoms, thickness > 2mm, presence of sub-retinal fluid, orange pigment (lipofuscin), proximity within 2 disc diameters of the optic disc, absence of overlying drusen and documented growth
  • Risk factors for choroidal melanoma incclude: light coloured irides, fair skin, inability to tan, ocular congenital ocular melanocytosis (‘naevus of Ota’) (1:400 lifetime risk of uveal melanoma), and, rarely, neurofibromatosis
  • The role of sunlight is uncertain, as most UV light is filtered by the lens

Symptoms

Choroidal naevi

  • Rarely symptomatic. Blurred or distorted vision can occur with sub-foveolar naevi or when associated with sub-retinal fluid

CHRPE

  • Asymptomatic

Choroidal melanoma

  • Symptoms include: photopsia, blurred or distorted vision, floaters, or field loss. In 30% of patients, uveal melanoma is detected (usually by optometrists) before symptoms develop

Signs 

Choroidal naevus

  • Typical naevi are small, flat and grey (though some are amelanotic), with a featureless surface
  • Atypical naevi are larger and dome-shaped, with or without drusen and/or traces of sub-retinal fluid
  • Drusen indicate chronicity so that their absence over a domed lesion is suspicious

CHRPE

  • Solitary, flat, well demarcated deeply-pigmented lesion (but may contain discrete non-pigmented areas called lacunae)
  • Elliptical or irregular
  • May show narrow non-pigmented line at margins of lesion
  • Patients with CHRPE may (very rarely) develop low-grade adenocarcinoma

Choroidal melanoma

  • Small choroidal melanomas are distinguished from naevi by:
    • clumps of orange pigment (which are hyperautofluorescent)
    • subretinal fluid, most easily seen on OCT
    • documented growth (which requires sequential colour photography)
  • Larger choroidal melanomas are dome-shaped, >2 mm in thickness, with serous retinal detachment. The mushroom (‘collarstud’) shape is almost pathognomic for melanoma
  • About 5% of choroidal melanomas are diffuse (i.e. with a wide base but minimal thickening). These tumours are aggressive and often extend extra-ocularly by the time of diagnosis
  • Vitreous haemorrhage is rare, occurring only if the tumour has perforated the retina

Differential diagnosis

  • Peripheral exudative haemorrhagic chorioretinopathy
  • Circumscribed choroidal haemangioma
  • Haemorrhagic detachment of RPE or retina
  • Age-related macular degeneration
  • Choroidal metastasis from tumour elsewhere

Management by optometrist 

Practitioners should recognise their limitations and where necessary seek further advice or refer the patient elsewhere 

GRADE* Level of evidence and strength of recommendation always relates to the statement(s) immediately above

Non pharmacological 
  • Sequential colour photography is essential for demonstrating or excluding tumour growth
    • If imaging not available, make careful drawing with
      measurement
  • OCT and autofluorescence imaging help to differentiate large naevi from small choroidal melanomas

(GRADE*: Level of evidence=low, Strength of recommendation=strong)

Pharmacological 

None

Management category

A3 (modified): Urgent (within one week) referral to ophthalmologist following telephone discussion

  • Choroidal melanoma
  • ‘High-risk’ choroidal naevus
    • documented increase in size, especially thickness
    • symptoms
    • sub-retinal fluid
    • location within 2 disc diameters of optic disc
    • clumps of orange pigment on the tumour surface

B2 (modified): Regular surveillance; normally no referral to ophthalmologist

  • ‘Low-risk’ choroidal naevus
    • none of the above ‘high-risk’ features
  • CHRPE

Possible management by ophthalmologist

Choroidal naevus/CHRPE

  • Serial observation and imaging

Choroidal melanoma

  • Managed by a supra-regional multidisciplinary team
  • Pre-operative investigations include: ultrasonography, OCT, autofluorescence imaging and, if diagnosis uncertain, aspiration biopsy with a fine needle or vitreous cutter. Cytology confirms the diagnosis of melanoma, whereas genetic analysis (e.g. multiplex ligation-dependent probe amplification) determines whether the melanoma has metastastic potential
  • Treatment dependent on staging and includes:
    • brachytherapy with a radioactive plaque
    • proton beam radiotherapy
    • laser therapy (usually as an adjunct to radiotherapy)
    • surgical resection, trans-sclerally or trans-retinally
    • enucleation
  • Postoperative surveillance for metastases, according to genetic results

Evidence base 

*GRADE: Grading of Recommendations Assessment, Development and Evaluation (www.gradeworkinggroup.org)

Sources of evidence

Damato B, Heimann H. Personalized treatment of uveal melanoma. Eye (Lond). 2013;27(2):172-9

Damato EM, Damato BE. Detection and time to treatment of uveal melanoma in the United Kingdom: an evaluation of 2,384 patients. Ophthalmology. 2012;119(8):1582-9

Damato B, Eleuteri A, Taktak AF, Coupland SE. Estimating prognosis for survival after treatment of choroidal melanoma. Prog Retin Eye Res. 2011;30(5):285-95

Kaliki S, Shields CL. Uveal melanoma: relatively rare but deadly cancer. Eye (Lond). 2017;31(2):241-57

Shields CL, Manalac J, Das C, Ferguson K, Shields JA. Choroidal melanoma: clinical features, classification, and top 10 pseudomelanomas. Curr Opin Ophthalmol. 2014;25(3):177-85

Shields CL, Furuta M, Berman EL, Zahler JD, Hoberman DM, Dinh DH, Mashayekhi A, Shields JA. Choroidal nevus transformation into melanoma: analysis of 2514 consecutive cases. Arch Ophthalmol. 2009;127(8):981-7

Shields CL, Furuta M, Mashayekhi A, Berman EL, Zahler JD, Hoberman DM, Dinh DH, Shields JA. Clinical spectrum of choroidal nevi based on age at presentation in 3422 consecutive eyes. Ophthalmology. 2008;115(3):546-52

Shields CL, Mashayekhi A, Ho T, Cater J, Shields JA. Solitary congenital hypertrophy of the retinal pigment epithelium: clinical features and frequency of enlargement in 330 patients. Ophthalmology. 2003;110(10):1968-76

Singh AD, Kalyani P, Topham A. Estimating the risk of malignant transformation of a choroidal nevus. Ophthalmology. 2005;112(10):1784-9

Sumich P, Mitchell P, Wang JJ. Choroidal nevi in a white population: the Blue Mountains Eye Study. Arch Ophthalmol. 1998;116(5):645-50

Further information

http://www.oculonco.com/
http://www.ocularmelanomaonline.org

Lay summary

A Choroidal Naevus (similar to a mole on the skin) occurs inside the eye in the choroid, which is the layer of nourishing and supportive tissue between the retina (the part of the eye that receives light and sends images to the brain) and the sclera (the ‘white’ of the eye). Choroidal naevus cannot be seen from the outside and usually causes no symptoms, so that people who do not have professional eye tests may never know that they have this condition. Very rarely, a choroidal naevus transforms into a malignant melanoma. Certain features identify naevi with a high risk of transformation.

Choroidal naevus can be confused with a condition called Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE), a harmless blemish, present from birth in some people.

A large choroidal naevus can be confused with Choroidal Malignant Melanoma, which threatens sight and requires urgent review by an ophthalmologist. Treatment of choroidal melanoma is aimed at preventing spread of the tumour to other parts of the body, if possible conserving the eye with useful vision. The ophthalmologist has several different treatment techniques available. Genetic testing of removed tumour material can show whether or not metastasis (spreading of the tumour to other parts of the body) is likely.

The optometrist who diagnoses a high-risk choroidal naevus or a choroidal melanoma is advised to refer the patient to the ophthalmologist urgently (within one week). Other cases can be monitored by the optometrist; however, such monitoring requires sequential photography to detect or exclude tumour growth, and a method for identifying patients who have missed their follow-up appointment and who need to be encouraged to undergo regular eye examination.

Pigmented fundus lesions
Version 1
Date of search 20.07.16 
Date of revision 22.06.17
Date of publication 17.10.17
Date for review 19.07.18
© College of Optometrists 

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