Vitreous Hemorrhage in Cutis Marmorata Telangiectatica Congenita

In the fall of 2024, a provider at an outside institution consulted with Francine Blei, MD, director of the Hemangioma and Vascular Malformations Program at Hassenfeld Children’s Hospital at NYU Langone, about a full-term days-old infant in the NICU with diffuse cutis marmorata telangiectatica congenita (CMTC). Characterized by a blue, marbled pattern to the skin, CMTC’s lacy peripheral capillary anomalies are typically temporary and resolve by 2 to 3 years of age. However, they may also indicate abnormalities of the retinal or cerebral vasculature, or an underlying genetic condition, warranting immediate medical evaluation.

As a first step, Dr. Blei recommended an ophthalmologic exam. When the evaluation revealed a vitreous hemorrhage in one eye, the patient was emergently transferred to NYU Langone.

There, NYU Langone pediatric retina specialist Vaidehi S. Dedania, MD, who frequently collaborates with Dr. Blei on CMTC cases, performed a complete eye exam in the operating room with fluorescein angiography for definitive diagnosis. In addition to vitreous hemorrhage, the procedure identified areas of avascular retina and scar tissue in both eyes, as well as the beginnings of a retinal detachment in one eye.

“Ocular involvement associated with CMTC can be variable. Often, infants with CMTC don’t receive an eye exam with fluorescein angiography because the condition is extremely rare and doctors may not recognize the need for one, or because parents may avoid it due to concerns about anesthesia,” Dr. Dedania says. “If that had been the case with this baby, he probably would have come to us months later with retinal detachment, which is not salvageable. We were lucky to evaluate and treat him in time.”

A Leader in CMTC

Dr. Dedania receives roughly five patient referrals for CMTC each year. “As one of the only pediatric retina specialists in New York City, I manage this rare condition in collaboration with our other specialists,” she says.

She also leads studies in collaboration with other researchers to better understand and describe the full range of the condition’s ocular manifestations. “Our research has found that the more severe the CMTC skin condition, the more likely a patient’s eyes or brain will be impacted,” she says.

If not promptly identified and treated after birth, CMTC with ocular involvement can result in vision loss due to congenital glaucoma or total retinal detachment, which may lead to secondary neovascular glaucoma.

Treatment Approach and Outcome

After no other CMTC-associated abnormalities were identified, Dr. Dedania proceeded with bilateral laser photocoagulation, ablating the ischemic retinal tissue driving neovascularization. The hour-long procedure succeeded in destroying the stimulus for the abnormal vessel growth, preventing retinal detachment. The baby was discharged within 24 hours.

In the future, the patient may develop some degree of peripheral visual field loss as a result of laser treatment. However, the extent will not be known until the patient is old enough to undergo formal visual field testing.

Meanwhile, postoperative follow-up testing confirmed that the vitreous hemorrhage had dissipated, the retinal traction had resolved, and vision was preserved.

“Our goal was to prevent the child’s condition from escalating to retinal detachment, which we did. The outcome for this child is wonderful,” Dr. Dedania says.

“There are few circumstances where we can truly change the course of someone’s life through preventive treatment that preserves vision, and this is one of them.”