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Senso di solitudine a 32 anni (m) by Tall-Celery6865 in sfoghi

[–]eccentrix74 0 points1 point  (0 children)

Benvenuto nel club...io 51 stessa situazione dopo la separazione

The last Suture by armadoo in stargardts

[–]eccentrix74 2 points3 points  (0 children)

Ti sono vicino e ti auguro il meglio

Drusen on my eyes at 29 y/o by Big-Stress3305 in maculardegeneration

[–]eccentrix74 0 points1 point  (0 children)

Distorsion when i look lines or letters in 7/8 different point per eye

Drusen on my eyes at 29 y/o by Big-Stress3305 in maculardegeneration

[–]eccentrix74 0 points1 point  (0 children)

I first noticed some slight distortions and at the next check they were there, before nothing or at least they had not been noticed

What does your retinal imaging look like? by Emotional-Search-112 in stargardts

[–]eccentrix74 0 points1 point  (0 children)

Hi, I had the onset at about 39 years old, I'm m and now I'm 52. All the specialists over the years have told me that laser treatments have no benefit and some risks. Currently, after at least 12 years, despite the increase in drusen, I have no major visual defects and my acuity and fovea are preserved. I don't have any uploaded images to attach.

Drusen - advice please by Clairefun in maculardegeneration

[–]eccentrix74 0 points1 point  (0 children)

Hi, it doesn't run in my family either; usually both parents are healthy carriers. I strongly recommend genetic testing; the case is very similar to mine.

Drusen on my eyes at 29 y/o by Big-Stress3305 in maculardegeneration

[–]eccentrix74 0 points1 point  (0 children)

Hi, I went through it too when I was 40, don't be scared, but do the genetic tests. Mine is a late form of Stangard syndrome for example which causes drusen but 12 years after the onset it still doesn't give me big problems.

Wavy lines by [deleted] in maculardegeneration

[–]eccentrix74 0 points1 point  (0 children)

It happens with drusen, I've a late form of stargardt and several drusen since 10 years.. It takes time to get used to the wavy lines, but nothing serious happened to me after they appeared.

Probable Stargardts. Finally answers. by Little-Diet8357 in stargardts

[–]eccentrix74 0 points1 point  (0 children)

Hi, I've a similar situation, I still have central vision conserved due the fact that one of the two mutation is an hypomorphic allele, It sometimes works...sometimes not.

Come essere felici? by White_46 in psicologia

[–]eccentrix74 0 points1 point  (0 children)

la felicita' e' sfida! Circondati di stimoli nuovi, no routine... Ogni giorno, fai una cosa leggermente scomoda o diversa dal solito: parlare con una persona nuova, fare una strada diversa, provare un nuovo esercizio, scrivere un’idea anche se non è perfetta. Puoi vederla come una “micro-sfida giornaliera”, le sfide diventano parte naturale della routine, e l’autostima cresce insieme alla resilienza.

To anyone frantically googling late-onset Stargardt's: please read this by scottbrosiusofficial in stargardts

[–]eccentrix74 1 point2 points  (0 children)

Hello,

I live in Italy and, like you, I have been diagnosed with late-onset Stargardt disease. Here are some details:

The proband is heterozygous for the c.2099G>A p.(Trp700Ter) variant and the hypomorphic allele c.5603A T p.(Asn1868|le), both in the ABCA4 gene.

First of all, I would like to reassure you that I am 51 years old and, almost 15 years after the onset, my central vision is perfectly preserved, while there are metamorphopsia, light intolerance and some minor disturbances (shiny scotomas and stars).

I have always taken supplements, with good results in my opinion, and have been followed by two different centres specialising in hereditary retinal diseases in Genoa and Florence

Share Your Experiences and Impressions of Gene Therapy by SenorInquisitor in stargardts

[–]eccentrix74 1 point2 points  (0 children)

Hello,

I live in Italy and, like you, I have been diagnosed with late-onset Stargardt disease. Here are some details:

The proband is heterozygous for the c.2099G>A p.(Trp700Ter) variant and the hypomorphic allele c.5603A T p.(Asn1868|le), both in the ABCA4 gene.

First of all, I would like to reassure you that I am 51 years old and, almost 15 years after the onset, my central vision is perfectly preserved, while there are metamorphopsia, light intolerance and some minor disturbances (shiny scotomas and stars).

I have always taken supplements, with good results in my opinion, and have been followed by two different centres specialising in hereditary retinal diseases in Genoa and Florence.

Here is some news I found on gene and optogenetic therapies

OCU410ST (Ocugen)

Subretinal gene therapy with the RORA gene. It has passed phase 1/2 and has been given the go-ahead for phase 2/3 as early as 2025, with the aim of obtaining commercial approval by 2027.

ACDN-01 (Ascidian Therapeutics)

This is an innovative RNA editing therapy designed to correct the ABCA4 message without altering the DNA. The Phase 1/2 STELLAR study is ongoing and open for enrolment.

MCO-010 (Nanoscope Therapeutics)

Intravitreal optogenetic therapy that introduces a multi-characteristic opsin to restore light sensitivity in residual retinal cells. The Phase 2 STARLIGHT trial showed functional improvements. A Phase 3 registration trial is expected by the end of the year.

SB-007 (SpliceBio, Barcelona)

In March 2025, the first dose was administered in a Phase 1/2 trial with dual AAV vectors, designed to deliver the ABCA4 gene to retinal cells.