January-February 2020

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Oculodentodigital dysplasia: Identify eye involvement to prevent blindness


by Stefanie Petrou Binder, MD Contributing Writer

A case of oculodentodigital dysplasia (ODDD) was reported as an e-poster at the 2019 ASCRS ASOA Annual Meeting by John LiVecchi, MD, with noted contributions from C. Richard Blake, MD, and Phuong Nguyen, MD, adding to a growing awareness of this autosomal dominant disorder. An increased cognizance of this rarely encountered syndrome and identification of its myriad symptoms can help prevent blindness in affected persons if diagnosed on time.
ODDD has a reported incidence of 1 in 10 million and is caused by mutations in a gene that provides instructions for the synthesis of the protein connexin 43. It affects the development of the face, eyes, skeletal system, heart, and teeth, among other of the body’s systems.

Case example

Dr. LiVecchi described the case of a young female patient who presented with blurry vision that she experienced from childhood. The patient had short stature, sparse and brittle scalp hair, hypoplastic alae nasi, microdontia, dental caries, and palmoplantar keratoderma, which have all been associated with ODDD. Ocular examination revealed microcornea, strabismus, cataracts, and increased IOP in both eyes.
“We defined ODDD on the basis of clinical characteristics such as microphthalmia, microcornea, microdontia, hypoplastic alae nasi, and syndactyly,” Dr. LiVecchi said. “We did a complete anterior and posterior segment evaluation of the patient and managed complex ocular problems secondary to this extremely rare disorder.”

History

Patient history in individuals with ODDD often involves a complex series of interventions. Dr. LiVecchi’s patient was no exception. She underwent a trabeculectomy in her left eye in 2007. Two years later, IOP was uncontrolled and she received an Ahmed Glaucoma Valve (New World Medical). Her IOP remained stable after surgery. In 2009, the patient had cataract surgery in both eyes. Her right eye received a Baerveldt Glaucoma Implant (Johnson & Johnson Vision) in 2014, followed by pars plana vitrectomy, choroidal drainage, and tube litigation a few months later for hypotony and choroidal hemorrhage. One month later, the Baerveldt implant became exposed and was removed and replaced by an inferior Ahmed tube. At the time of Dr. LiVecchi’s report, the patient’s IOP in the right eye was controlled with the help of maximum glaucoma drops.
The association between ODDD and the mutation in connexin 43 transmembrane domain was investigated in two patients with ODDD as part of a study.1 It described two ocular abnormalities not previously emphasized in this syndrome, namely optic nerve and retinal dysplasias and ciliary body cysts. The outcomes support the potential significance of connexin 43 in the retina, optic nerve, and ciliary body, and their association with reduced vision in people with this syndrome, suggesting that these abnormalities are more common in ODDD than previously appreciated. In addition, the ciliary body cysts may be associated with weakened cellular adhesions and may exacerbate glaucoma or complicate its management.
Recognition of the facial phenotype in persons with ODDD may go a long way in helping identify individuals with this syndrome. A study that investigated three cases of ODDD described a characteristic thin, pinched nose with hypoplastic nasal alae and prominent columellae, which were clearly present from infancy and became more obvious by age four. The consistency of the facial appearance among the patients in this study was striking and worth stressing, according to the study authors, as well as the observation of a narrow nasal bridge and prominent epicanthic folds. Other characteristics observed in this three-case study included conductive deafness and syndactyly.2
“ODDD presents with distinct facial and limb characteristics, as well as ocular findings, that can severely affect vision. Glaucoma is eight times higher in ODDD patients. It is crucial to raise awareness about this syndrome and aid in the recognition of this rare entity to help prevent blindness,” Dr. LiVecchi said.

About the doctor

John LiVecchi, MD
Department of Ophthalmology
University of Florida
Gainesville, Florida

References

1. Gabriel LA, et al. Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation. Arch Ophthalmol. 2011;129:781–4.
2. Patton MA, Laurence KM. Three new cases of oculodentodigital (ODDD) syndrome: development of the facial phenotype. J Med Genet. 1985;22:386–389.

Relevant disclosures

LiVecchi: None

Contact

LiVecchi: jtlivemd@aol.com

Oculodentodigital dysplasia: Identify eye involvement to prevent blindness Oculodentodigital dysplasia: Identify eye involvement to prevent blindness
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