History of present illness
We present a case of a 6-year-old male patient with decreased vision and strabismus. Parents reported a normal birth history. Medical history is otherwise unremarkable.
Ocular examination findings
Visual acuity was 20/200 in the right eye and 20/30 in the left eye. Intraocular pressure was normal. The patient did exhibit a right exotropia. Dilated fundus examination exhibited a solitary and elevated gray tumor in the inferior macula with tortuous intrinsic vessels in the right eye. The periphery of the right eye was normal. The fundus of the left eye was normal throughout.
Imaging
Fluorescein angiography (FA) highlighted the vascular tortuosity and prominence within the lesion, and late-phase photographs exhibited significant vascular leakage throughout the macula.
Questions to ask
- ■
Does the patient have any systemic symptoms or health conditions? Combined hamartomas can be associated with systemic syndromes, most commonly neurofibromatosis type 2, but also neurofibromatosis type 1, Gorlin syndrome, and even branchio-oculo-facial syndrome.
- ■
No
- ■
- ■
What is the internal reflectivity of the macular lesion? Combined hamartomas are often misdiagnosed as choroidal melanomas. However, these hamartomas tend to have high-medium reflectivity, whereas choroidal melanomas have low-medium internal reflectivity.
- ■
High-medium internal reflectivity
- ■
Assessment
- ■
This is a case of a young, otherwise healthy male patient with decreased vision, strabismus, and a unilateral gray elevated macular lesion involving all retinal layers with associated epiretinal membrane (ERM). The patient was assessed for possible neurofibromatosis, though the assessment was negative
Differential diagnosis
- ■
Choroidal melanoma
- ■
Choroidal nevus
- ■
Morning glory syndrome
- ■
Retinoblastoma
- ■
Retinal pigment epithelium adenoma or adenocarcinoma
- ■
Melanocytoma
- ■
Toxocara or toxoplasmosis infection
- ■
Combined hamartoma of the retina and retinal pigment epithelium (CHRRPE)
Working diagnosis
- ■
Combined hamartoma of the retina and retinal pigment epithelium (CHRRPE)
Multimodal testing and results
- ■
Fundus photographs
- ■
On fundus examination, these lesions can involve the macula or optic disc ( Fig. 71.1 ). These lesions are often elevated and somewhat pigmented with prominent vessels within the tumor ( Fig. 71.2 ). They are also often associated with an overlying ERM.
- ■
- ■
Optical coherence tomography (OCT)
- ■
OCT findings of these alterations include preretinal membranes with associated retinal striae, disorganization of all retinal layers, and photoreceptor attenuation.
- ■
More specifically, these tumors have been further described by the following terms:
- ■
Minipeak: vertical vitreoretinal traction
- ■
Maxi-peak: folding of the inner retinal layers
- ■
Sawtooth or omega sign: distortion of the outer plexiform layer
- ■
- ■
- ■
FA
- ■
These tests can be somewhat diagnostic for these lesions. Early phases exhibit prominence of the fine capillaries and vessels within the tumor with subsequent late phases showing leakage of these vessels ( Fig. 71.1 B-D).
- ■
- ■
OCT angiography (OCTA)
- ■
OCTA confirms the vascularity abnormalities in these lesions. Vascular tortuosity and traction have been documented in the superficial and deep layers within the retinal tumor.
- ■
Management
- ■
Although these lesions can present somewhat variably, vision loss in these patients is most often linked with a macular location of the lesion. However, even peripheral lesions can present with other vision-threatening consequences such as vitreous hemorrhage, choroidal neovascularization, ERMs, macular edema, and even retinal detachment.
- ■
Given these patients often present as children, amblyopia therapy should be considered, where appropriate, to improve visual acuity.
- ■
Successful photodynamic therapy has been documented; however, most recently intravitreal anti–vascular endothelial growth factor (anti-VEGF) has become the mainstay for treatment of CHRRPE-related choroidal neovascularization.
- ■
Surgery for these lesions is somewhat controversial; however, there has been noted success and vision improvement for those lesions with significant ERMs and vitreoretinal traction after pars plana vitrectomy.
Follow-up care
- ■
As this diagnosis is relatively rare, there are not established guidelines for follow-up care.
- ■
Our patient is followed on a biannual basis by the pediatric and retina services.
- ■
Specific follow-up care and scheduling should be based upon specific patient factors including presence of amblyopia, progression of vision loss, vitreoretinal traction/preretinal membranes, and presence of choroidal neovascularization .
