History of present illness
We present a case of a 6-month-old female infant with an unremarkable birth history referred for evaluation of vitreous hemorrhage and retinal detachment (RD) in the left eye. Patient was born full term at 8 lbs 1.6 oz without supplemental oxygen use. Patient’s family denied history of prior ocular conditions or ocular surgeries.
Systemic findings
Erythematous macular skin lesions were observed in bilateral lower extremities, and verrucous and pustular lesions were observed in upper extremities ( Fig. 8.1 ).
Ocular examination findings
Vision was wink to light in both eyes. Intraocular pressure was normal to palpation. Pupils were round and reactive bilaterally. External examination was normal in both eyes. Anterior segment examination of the left eye demonstrated prominent iris vessels with 270 degrees of posterior synechiae, a shallow chamber, and a posterior lens opacity with overlying blood vessels ( Fig. 8.2 ). Anterior segment evaluation of right eye was unremarkable. Fundus examination was unremarkable in the right eye. Fundus examination of the left eye revealed vitreous hemorrhage with no view of the posterior pole.
Imaging
B-scan ultrasonography of the left eye showed a tractional RD ( Fig. 8.3 ). Fundus photograph of right eye was notable for retinal pigment epithelium (RPE) hypopigmentation superiorly and a blunted foveal pit ( Fig. 8.4 ). Fluorescence angiography of the right eye showed normal vascular filling and no areas of neovascularization or retinal ischemia. The foveal avascular zone in the right eye appeared to be enlarged ( Fig. 8.5 ).
Questions to ask
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Was the patient born prematurely or with low birth weight? Retinopathy of prematurity is an important consideration in infant patients with evidence of retinal nonperfusion and RDs.
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No
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Does the patient have a family history of ocular or systemic conditions? A family history is important to differentiate between possible etiologies of abnormal retinal angiogenesis and RDs, such as familiar exudative vitreoretinopathy, sickle cell retinopathy, incontinentia pigmenti (IP), von Hippel–Lindau disease, X-linked juvenile retinoschisis, and Stickler syndrome.
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Yes. Patient’s mother had a family history of vision loss in infancy and amblyopia associated with skin lesions.
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Is there a history of trauma? Trauma is associated with unilateral RD and retinal hemorrhages in infants.
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No
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Does the patient have refractive error? Patients with Stickler syndrome have associated myopia.
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No
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Is there a mass lesion on imaging or funduscopic examination? Masses or tumors are associated with retinoblastoma and von Hippel–Lindau disease.
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No. The patient had no masses on B-scan ultrasonography.
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Assessment
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This is a case of a 6-month-old female infant with an unremarkable birth history and erythematous skin lesions with a tractional RD in the left eye and enlarged parafoveal avascular zone.
Differential diagnosis
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Retinopathy of prematurity
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Familiar exudative vitreoretinopathy
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Stickler syndrome–related rhegmatogenous RD
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Traumatic RD
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Retinoblastoma
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X-linked juvenile retinoschisis
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Von Hippel–Lindau disease
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Persistent fetal vasculature
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Eales disease
Working diagnosis
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IP
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IP or Bloch-Sulzberger syndrome is associated with progressive skin lesions, retinal nonperfusion, RPE defects, and RDs. Although patients typically present with retinal peripheral nonperfusion, patients can present with tractional RDs.
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Multimodal testing and results
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Fundus photographs
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Fundus examination is typically notable for absent foveal pit, hyper- or hypopigmented RPE defects, optic nerve atrophy, retinal/vitreous hemorrhages, and exudative or tractional RDs. ,
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Optical coherence tomography (OCT)
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Findings on OCT include retinal thinning of both inner and outer segments.
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Fluorescein angiography (FA)
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Our patient had evidence of an enlarged parafoveal avascular zone, which is typical of IP. Other signs common to IP not present in our patient include peripheral retinal nonperfusion, neovascularization, and retinal vessel occlusion.
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Genetic testing
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As an X-linked dominant disease, IP is associated with mutations in the NEMO/IKK gamma gene. Living male patients have the XXY genotype (Klinefelter syndrome). Diagnosis of IP was confirmed by genetic testing in our patient.
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Laboratory testing
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Eosinophilia may be present.
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Brain magnetic resonance imaging
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Evidence of vasoocclusion leading to cortical blindness, cerebral atrophy, corpus callosum hypoplasia, and hemorrhagic necrosis can be present. ,
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Management
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No cure exists.
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The focus is on treating symptoms.
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Consult with dermatology, neurology, and genetics to manage extraocular disease manifestations.
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The areas of peripheral avascularity are often treated with laser photocoagulation or cryotherapy in cases with evidence of neovascularization, vitreous traction, or vitreous hemorrhage.
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There is limited long-term data regarding the role of prophylactic laser ablation to prevent RDs.
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RDs can be surgically repaired with pars plana vitrectomy and/or scleral buckle.
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Our patient underwent synechiolysis and lensectomy of the left eye. RD repair was deferred because of poor anatomical and visual potential.
Follow-up care
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No established consensus guidelines for follow-up exist.
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One study of IP described retinal screening as soon as possible after birth, then monthly examinations until 4 months, then every 3 months until 1 year of age, then biannually until 3 years, and annually thereafter.
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Follow-up includes examination under anesthesia (EUA) and FA.
Algorithm 8.1 : Algorithm for differential diagnosis for retinal nonperfusion in infants
