Rare Diseases

Bilateral Subretinal Fluid in a 66-Year-Old Woman

Findings on multimodal imaging led to a diagnosis of autosomal recessive bestrophinopathy.

Timothy T. Xu, MD; Justin C. Muste, MD; and Sidra Zafar, MD

IRD Clinical Trial Endpoints: Lessons Learned

Choosing the right outcome measures for inherited retinal disease trials requires matching endpoints to disease biology, therapeutic mechanism, and patient experience.

Melissa Yuan, MD, and Ahmad Al Moujahed, MD, PhD

Genetic Testing in the Retina Practice

What’s changing and why it matters.

Timothy S. Lee, MD; Eric W. Lai, MD; and Sidney A. Schechet, MD

Therapies for IRDs: Moving Beyond Single-Gene Solutions

Emerging gene-agnostic strategies target shared pathways and offer options for IRD patients without mutation-specific therapies.

Aykut Demirkol, MD; Rajvir Solanky; Jayvin Hernandez-Reyes; Ilay Demirkol; and Kuzey Soydas

FA Imaging in Behçet Disease

Imaging is essential for diagnosis, disease staging, and prognostication.

Kanwaljeet Harjot Madan, MS(Ophth), FAICO

Keep Up With the IRD Patient Standard of Care

Christine Kay, MD; Vinit B. Mahajan, MD, PhD; and Jose S. Pulido, MD, MS, MBA, MPH

The Challenge of IRD in Children

Researchers are investigating ways to tackle delayed diagnosis, imaging complications, and unreliable access to genetic testing in pediatric care.

Angela S. Li, MD; Cesar Estrada-Puente, MD; Paula C. Morales, MD; and Ramiro Maldonado, MD

A Look at Orphan Drug Development in Retina

The regulatory pathway has matured, and the commercial and reimbursement lessons have sharpened.

Thomas A. Ciulla, MD, MBA

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; Brittni A. Scruggs, MD, PhD; Yicheng Bao, MD; and Hossein Ameri, MD, PhD, FRCSI, MRCOphth

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