Podcast: Intravitreal Injection Treatment for CEP290-Leber Congenital Amaurosis

Hot off the press! Just last month, in December 2018, results from a clinical trial for a potential new treatment for patients with a blinding inherited eye disease were published in Nature Medicine.

This trial, which studied the effect of an intravitreal injection for patients with Leber congenital amaurosis (LCA) due to mutations in the CEP290 gene, showed promising results, and I was invited to join the popular “Straight From the Cutter’s Mouth: A Retina Podcast” this week to discuss the results. If you’d like to listen to the podcast, it is available at the link above, or directly via the stream below, or on iTunes. I come in around the 12:55 mark, but you should definitely listen to Dr. Ho first, one of the paper’s authors.

Between these results, and those that led to the development of a commercially-available treatment for another type of LCA, the future is bright for patients with inherited retinal disease!

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Podcast: Leber Congenital Amaurosis, CSNB, and Achromatopsia

It's Thanksgiving this week, and one of the things I'm thankful for is the blessing of great colleagues in ophthalmology. One of them, Dr. Jay Sridhar of the University of Miami, is the host of the rising star "Straight From the Cutter's Mouth" podcast, and I've enjoyed being a guest on his podcast, usually talking about inherited eye disease.

This week, we talked about Leber congenital amaurosis (a hot topic recently), as well as congenital stationary night blindness (CSNB), and achromatopsia. Happy Thanksgiving!

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Podcast: Retinitis Pigmentosa

I recently had the privilege of joining the Four-Timers Club as a guest on the excellent Straight From the Cutter's Mouth podcast. During this episode, host Dr. Jay Sridhar and I reviewed retinitis pigmentosa and some systemic syndromes, such as Usher syndrome and Bardet-Biedl syndrome, that include retinitis pigmentosa as part of the condition.

Here's a link to subscribe to this top-notch podcast on iTunes.

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Podcast: Review of Inherited Macular Dystrophies

I was honored to be invited back again as a guest on the Straight From the Cutter's Mouth Podcast this week. This time, host Dr. Jay Sridhar and I discussed one of my favorite subjects: inherited macular dystrophies. It's a succinct review covering the clinical essentials of conditions like Stargardt disease, Best disease, and pattern dystrophy.

Here's a link to subscribe to this top-notch podcast on iTunes.

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Podcast: Discussing What Went Wrong at the "Stem Cell Clinic"

The folks over at "Straight From the Cutter's Mouth: A Retina Podcast" invited me on today to talk about the article published this week in the New England Journal of Medicine describing three patients who went blind after receiving "stem cell" injections for treatment of macular degeneration. I wrote about this story in greater detail earlier this week here.

I come on at the 23:06 mark, but the entire podcast is well worth your time.

Here's the link to subscribe in iTunes.

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Guest on "Straight From the Cutter's Mouth" Podcast

I had the great honor of being invited on the "Straight From the Cutter's Mouth" podcast this past week. The host, Dr. Jayanth Sridhar MD, is a friend and colleague whom I met while we were both interviewing for ophthalmology residency positions.

We talked, among other things, about taking care of patients with inherited eye diseases like retinitis pigmentosa and Stargardt disease, as well as strabismus in patients with history of scleral buckle surgery to correct a retinal detachment. We had a great discussion, and I hope you like it!

The episode can be found here, and you can subscribe to the podcast on iTunes here.

My efforts as an artist: learning to draw the retina

While in training at the University of Iowa's ophthalmology department, I was fortunate enough to have Dr. Stephen R. Russell as one of my mentors. Dr. Russell, a vitreoretinal surgeon and researcher, had himself trained at Iowa, and developed a love for retinal drawings.

In the past, ophthalmologists would often spend 30 minutes or more drawing a picture of what they saw during the patient's eye exam. The retina, the thin layer that lines the inside of the back of your eye, is the most expressive part of the eye, and even the exact same disease can look different from one patient to the next.

Since the advent of improved ophthalmic photographic techniques -- and the increase in the number of patients needing to be seen each day -- ophthalmologists don't take nearly as much time to draw their findings anymore. Lamenting this, Dr. Russell put together a beautiful book containing many exquisite drawings done by dozens of different ophthalmologists at Iowa.

Looking through this book for the first time was an emotional experience. Taking care of people's eyes means so much to me, and I could literally feel the love that these doctors -- all of whom had walked the same halls I was then walking, and many of whom had gone on to become giants in our profession -- had for their patients and their craft as they made these meticulous, beautiful drawings. I decided to put a little more effort into my drawings as time allowed.

Take a look at my own comparatively very unimpressive retinal art in this slideshow, and then scroll down to see a showstopping example from Dr. Russell's book.

Autosomal recessive retinitis pigmentosa

Optic disc pallor, arteriolar attenuation, tiny preserved area of retina within macula, diffuse atrophy with visible choroidal vasculature and heavy bone-spicule-like pigmentation

Autosomal dominant retinitis pigmentosa

Diffuse arteriolar attenuation, widespread atrophy of retinal pigment epithelium, visible choroidal vasculature

ABCA4-associated Stargardt disease

Vermillion fundus, pisciform flecks, central atrophy with overlying pigment, peripapillary sparing

Exudative age-related macular degeneration (AMD)

Disciform scars in each eye

X-linked ocular albinism

Absence of foveal light reflex, with very prominent choroidal vasculature in each eye

Autosomal recessive retinitis pigmentosa

Peripheral retinal pigment epithelium atrophy with bone-spicule-like pigmentation, arteriolar attenuation

Best disease

Central vitelliform (egg-yolk) lesion in both eyes, centered on fovea

Choroideremia

Widespread severe atrophy of retinal pigment epithelium with extensive scleral visualization, polygonal black pigment visible on bare sclera

CRB1-associated Leber congenital amaurosis (LCA)

Nummular pigment and atrophy in macula OU with diffuse bone-spicule-like pigmentation; not pictured here are some classic features of CRB1-associated disease: a Coats'-like response, periarteriolar preservation of the retinal pigment epithelium, and disorganized retinal thickening (seen best on OCT)

Cuticular drusen

Hundreds of tiny uniform drusen, clumped in Staphylococci-like clusters

Unknown retinal dystrophy affecting central macula

Leber congenital amaurosis (LCA), not yet molecularly confirmed

Peripheral retinal atrophy

Lots of pathology

1) Stable choroidal nevus inferonasally in the right eye; 2) Presumed ocular histoplasmosis syndrome with history of peripapillary choroidal neovascularization in the right eye; 3) Old retinal detachment temporally in the right eye, after laser barricade

Manifesting carrier of RP2-associated X-linked retinitis pigmentosa

Diffuse bone-spicule-like pigmentation in the left eye, combined with just a single patch in the right eye. Initial suspicions were for a somatic RP mutation or AZOOR, but genetic testing revealed a novel RP2 mutation.

Multifocal Best disease

Central vitelliform lesions with pseudohypopyon in the left eye. Peripheral lattice degeneration in both eyes.

Cuticular drusen

Hundreds of small tiny drusen in clusters in both maculae

ABCA4-associated Stargardt disease

Hundreds of pisciform flecks in each eye, with peripapillary sparing and vermillion fundus

Presumed ocular histoplasmosis syndrome (POHS)

Peripapillary choroidal neovascular membranes (CNVM) in each eye

FLVCR-1 associated retinitis pigmentosa

Arteriolar attenuation, diffuse bone-spicule-like pigmentation with radial breaks

Autosomal recessive retinitis pigmentosa

Looks like Stargardt disease due to central atrophy and yellow flecks. Very prominent vortex veins.

Autosomal recessive retinitis pigmentosa

Diffuse, confluent bone-spicule-like pigmentation, arteriolar attenuation

RPGR-associated X-linked retinitis pigmentosa

Preserved central area of retinal pigment epithelium within a sea of atrophy

ABCA4-associated Stargardt disease

Central atrophy in each eye with elevated fibrotic area in right eye, macula surrounded by pisciform flecks

Chronic central serous retinopathy (CSR)

Gutters of fluid drain inferiorly in each eye, creating atrophic areas inferior to fovea

USH2a-associated type 2 Usher syndrome

Cobblestone atrophy nasally, diffuse bone-spicule-like pigmentation overlying atrophy of the retinal pigment epithelium

USH2A-associated type 2 Usher syndrome

Only rare bone-spicule-like pigmentation, with atrophy along the vascular arcades

RPGR-associated X-linked retinitis pigmentosa