Rare Diseases

Rare Disease Mystery Cases

Can you diagnose these unusual cases based on the examination and imaging?

Kenneth C. Fan, MD, MBA; Caroline C. Awh, MD; Nimesh A. Patel, MD; Marta Stevanovic, MD, MSc; Maria Emfietzoglou, MD; Demetrios Vavvas, MD, PhD; Mary V. Lang; Lisa A. Schimmenti, MD; and Brittni A. Scruggs, MD, PhD

A Rare Case of Choroidal Vitiligo

Recognize this uncommon sign of varicella-zoster reactivation.

Tina Tang, MD, and Nauman Chaudhry, MD

Incontinentia Pigmenti-Associated Retinopathy

Early screening of these patients is imperative for accurate risk assessment and timely intervention.

Sengul Ozdek, MD, FEBO; and Ece Özdemir Zeydanlı, MD, FEBO, FICO

Racemose Hemangioma

This congenital retinal condition should be followed regularly in case of complications.

Malvika Singh, MS, DNB, FICO; Rohan Jain, MS; and Manish Nagpal, MS, FRCS, FASRS

Implanting Encapsulated Cell-Based Gene Therapy

Add MacTel therapy to your surgical armamentarium.

Thomas M. Aaberg Jr, MD; Charles C. Wykoff, MD, PhD, FASRS, FACS; and Liliya Sutherland, DO

Update On Sickle Cell Retinopathy Management

Here’s where we are—and where my research shows we could be going.

Jennifer I. Lim, MD

A Case of PEHCR

Considerations for managing this rare chorioretinal degenerative disease.

Suraj D. Desai, BS; Rishabh Gupta, MD; Fred G. Crawford, MD; and Mathew W. MacCumber, MD, PhD

An OMD Retina Case

While subtle, certain signs and symptoms are characteristic of occult macular dystrophy.

Maria Ludovica Ruggeri, MD

Top IRDs to Watch: Achromatopsia

Pearls for diagnosing and managing a rare inherited disease with significant variability.

Landon J. Rohowetz, MD; Byron L. Lam, MD; and Jesse D. Sengillo, MD

Top IRDs to Watch: Cone and Cone-Rod Dystrophies

A look at the prevalence, symptoms, and long-term management of a rare set of inherited retinal diseases.

Dallin Milner, MD, and Marc Mathias, MD

Top IRDs to Watch: Leber Congenital Amaurosis

An update on management and approved and emerging treatments.

Benjamin Bakall, MD, PhD, and Shyamanga Borooah, PhD, MBBS, FRCP, FRCSEd, FRCOphth

Top IRDs to Watch: Retinitis Pigmentosa

Here’s what you need to diagnose, counsel, and follow patients with the most common inherited retinal disease.

Aidan Lee, MD, and Hossein Ameri, MD, PhD, FRCSI, MRCOphth

Gene Therapy for Inherited Retinal Disease: The Pipeline

A Hopeful Future for Patients with IRDs

Ben Shaberman, MA, MS

Top IRDs to Watch: Stargardt Disease

An overview of the most common juvenile macular dystrophy.

Maria Ludovica Ruggeri, MD, and Ishrat Ahmed, MD, PhD

Top IRDs to Watch: Usher Syndrome

Unraveling the syndromic association between hearing loss and retinal degeneration.

Maria Ludovica Ruggeri, MD, and Ishrat Ahmed, MD, PhD

Nutritional Supplementation for IRDs: Preservation or Placebo?

Recent evidence suggests some benefits, but more work is needed.

Paula Morales, MD; Cesar Estrada-Puente, MD; and Ramiro Maldonado, MD

Top IRDs to Watch: Choroideremia

Clinical characteristics, diagnosis, and management of this rare condition found primarily in men.

Maria Ludovica Ruggeri, MD, and Ishrat Ahmed, MD, PhD

Valsalva Retinopathy: The Silent Bleeder

A rare, potentially severe retinal hemorrhage can occur as a result of certain activities.

Inês Cerdeira Ludovico, MD; Patrícia Silva, MD; Joana Ferreira, MD; Ana Luísa Basílio, MD; and Carlos Batalha, MD

Identifying KIF11-Associated Retinopathy

Genetic testing helped elucidate the cause of lifelong low vision.

Francisca Bragança, MD; Célia Azevedo Soares, MD, PhD; and Ana Marta, MD