My great grandfather John Miller Richmond was born in 1873 in Galston, Ayrshire. He had 3 full siblings – Mary born 1866, Agnes Keir born 1868 and James born 1870. Their parents were James Richmond (1848-1910) and Janet Martin Miller (1838-1884).

John Miller Richmond and his young family left their Clydebank tenement in Scotland in 1910 bound for the Darling Downs in Queensland. They were followed two years later by his sister Agnes who had married William Watson.

As I contacted descendants of this couple during my family research, I was told that Agnes had been identified as a carrier of a rare genetic condition called Leber Hereditary Optic Neuropathy (LHON) and that several of her descendants were vision impaired. It has obviously had a huge impact on her descendants as one of them talked about it ‘decimating their family’.

What is LHON? LHON was first described by the German ophthalmologist Theodor Leber (1840–1917) in 1871. LHON is a rare mitochondrial disorder that typically presents in young males with progressive visual loss due to optic neuropathy. LHON was the first disease to be associated with mitochondrial DNA point mutations and is, therefore, maternally inherited.^[1]

My great grandfather almost certainly was afflicted by LHON, and his sister Agnes was definitely a carrier as her descendants are on the LHON database in Queensland. Did their sister Mary carry the mutation? It has taken me 20 years to find what happened to Mary Miller following her appearance in the 1871 census where she was living in Galston with her family. She was not with the family in 1881. Had she died? Several Ancestry trees had her married and living in America, but I was unconvinced.

A chance finding of a death in the Scotland’s People indexes of a Mary McMillan Miller who died in 1951 in Ayr, Ayrshire was exciting as her maternal grandmother was a Mary McMillan. The death certificate showed this was indeed ‘our’ Mary and that she had married Charles McBride in 1896 in Glasgow.

This discovery allowed me to find Mary and Charles in the 1911 census. They were living at the Glasgow Asylum for the Blind and Charles was described as ‘blind and deaf’. Did Mary also have a vision defect? There was no mention of this in 1911 nor in 1901, but there it was in 1891 – Mary was described as ‘blind’. She was 25. This discovery led to a light bulb moment, surely, using census data, I could follow the families through this female line to prove line of descent.

It seems Mary and Charles McBride had no children so there was nothing further to find there. So back to James Richmond, the brother of Mary, Agnes and John.  He had stayed in the Clydebank area and there was no mention of blindness in his census entries. Being male he couldn’t have passed the LHON to his offspring so there was no need to look at them. Janet Martin Miller (mother of Mary, James, Agnes and John) also had two illegitimate sons prior to her marriage to John Richmond – neither showed evidence of a vision defect in the census data.

To recap – Janet Martin Miller had 6 children and there was evidence that three of them had inherited LHON. Two of these had a vision defect (1 male and 1 female) and her other daughter passed the defect to her descendants.

What about the previous generation? Janet Martin Miller was born in Galston, Ayrshire in 1838. She was the middle of eight children born to William Miller and his wife Mary McMillan. Five children were male and three females. Using Parish records and census data I have been able to determine that 2 of the male children died before their fifth birthday and that there is no evidence of a vision defect in the other three males. As already discussed, their daughter Janet carried the LHON gene. Were her two sisters Margaret (1847-1882) and Mary (1849-1905) impacted?

Margaret Miller married Hugh Clark in Galston in 1868. In the 1881 census Margaret Miller Clark is described as ‘blind’. She was only 34. Margaret and Hugh had five children – 3 sons and 2 daughters. Sadly, the three oldest children (2 boys and a girl) died as young children in 1871. Their son John did grow up to marry and there is no evidence of blindness in his census data. This left a daughter Janet who was born in 1878. I haven’t located her after 1881 so more research is needed. I suspect she also died.

The youngest daughter of William Miller and Mary McMillan, Mary Miller (born in 1849) never married. She had an illegitimate daughter Janet in 1870 who sadly died four years later. In 1901 Mary was described as a housekeeper and was living with her now widowed brother-in-law Hugh Clark. She is recorded as having been blind for 28 years.  This means that all three daughters of Mary McMillan inherited LHON with two of them having vision loss at a young age.

Vision loss associated with LHON is said to mainly afflict males but in our family a seemingly disproportionate number of females appear to also exhibit vision loss.

Family history research has, until the advent of widespread use of DNA testing, relied solely on following a paper trail. This exercise has allowed me to use yet another means of determining that Mary McMillan who was born in 1811 in Dalmellington, Ayrshire was my 3 times great grandmother.

Unfortunately, I haven’t been able to move back another generation as her antecedent’s have proved elusive. Her death certificate says her parents were James McMillan a shepherd and Janet Martin, but I can’t find any other mention of this couple.

Several researchers have linked her to a James McMillan and Janet Clark who were having children in the area at that time, but I am unconvinced. What I do know is that the mother of Mary McMillan – be it Janet Martin or Janet Clark – carried LHON so it should be possible to look for evidence of vision loss in potential siblings of Mary McMillan and so identify her mother. My next project (when I win Lotto)!

^{[1] [Leber Hereditary Optic Neuropathy (LHON) – StatPearls – NCBI Bookshelf (nih.gov)]
[2] Permission to use received. ©CSG CIC Glasgow Museums and Libraries Collection: The Mitchell Library, Special Collections.}